This variant is associated with the following publications: (PMID: 26164256, 29248579, 28750667, 19426395, 21914217, 23584365, 23102769, 12577202, 24682985)
ClinVar Genomic variation as it relates to human health
NM_001370466.1(NOD2):c.2717+158C>T
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(9)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(2); Likely benign(3)
Uncertain significance(1); Benign(2); Likely benign(3)
9
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001370466.1(NOD2):c.2717+158C>T
Variation ID: 4697 Accession: VCV000004697.32
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 16q12.1 16: 50722863 (GRCh38) [ NCBI UCSC ] 16: 50756774 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 15, 2018 Oct 20, 2024 Nov 21, 2020 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370466.1:c.2717+158C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_001293557.2:c.2717+158C>T intron variant NM_022162.3:c.2798+158C>T intron variant NC_000016.10:g.50722863C>T NC_000016.9:g.50756774C>T NG_007508.1:g.30725C>T LRG_177:g.30725C>T - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000016.10:50722862:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
no known functional consequence
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.05172 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
1000 Genomes Project 0.05172
1000 Genomes Project 30x 0.05606
The Genome Aggregation Database (gnomAD) 0.10180
Trans-Omics for Precision Medicine (TOPMed) 0.10990
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| NOD2 | - | - |
GRCh38 GRCh37 |
950 | 1048 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
no assertion criteria provided
|
Apr 1, 2004 | RCV000416486.10 | |
| Uncertain significance (2) |
criteria provided, single submitter
|
Aug 18, 2020 | RCV000416489.12 | |
| Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2020 | RCV000960463.26 | |
| Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 5, 2019 | RCV001029749.13 | |
| risk factor (1) |
no assertion criteria provided
|
Apr 1, 2004 | RCV001781187.9 | |
| Likely benign (1) |
criteria provided, single submitter
|
Nov 21, 2020 | RCV001454181.13 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Aug 18, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Yao syndrome
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
unknown
|
Undiagnosed Diseases Network, NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV001499831.1 First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
Number of individuals with the variant: 1
Clinical Features:
Hematuria (present) , Arthritis (present) , Anemia (present) , Fever (present) , Abdominal pain (present) , Maturity onset diabetes mellitus in young (present)
Age: 60-69 years
Sex: female
Ethnicity/Population group: Caucasians
Tissue: blood
|
|
|
Benign
(Sep 24, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001873362.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Comment:
This variant is associated with the following publications: (PMID: 26164256, 29248579, 28750667, 19426395, 21914217, 23584365, 23102769, 12577202, 24682985)
|
|
|
Benign
(Dec 12, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Autoinflammatory syndrome
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002542713.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
|
|
|
Likely benign
(Nov 05, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Autoinflammatory syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
|
Breda Genetics srl
Accession: SCV001190343.1
First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
Comment:
The variant is reported as risk factor for susceptibility to Crohn disease and susceptibility to Yao syndrome in ClinVar (Variation ID: 4697). It is also … (more)
The variant is reported as risk factor for susceptibility to Crohn disease and susceptibility to Yao syndrome in ClinVar (Variation ID: 4697). It is also reported in ClinVar as pathogenic for Blau syndrome in one study for a patient with early-onset sarcoidosis and gastrointestinal granulomas (Borzutzky et al., 2010, PMID: 19467619), although in the article the authors define the variant only as polymorphism related to a susceptibility to Crohn disease. Furthermore, the variant is reported with an estimated allele frequency of 0.052 in 1000 Genomes Project and 0.1018 in gnomAD genomes, with homozygous individuals reported. We have also observed this variant in a large subset of samples without autoinflammatory syndromes at Breda Genetics. Based on the current evidence and high allele frequency, we interpret this variant as likely neutral in regard of pure mendelian inheritance for any form of genetic autoinflammatory syndrome. (less)
Sex: male
|
|
|
Likely benign
(Nov 21, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Regional enteritis
Blau syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001657898.2
First in ClinVar: Jun 08, 2021 Last updated: Apr 09, 2023 |
|
|
|
Likely benign
(Feb 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV002563339.16
First in ClinVar: Aug 23, 2022 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
|
|
|
risk factor
(Apr 01, 2004)
|
no assertion criteria provided
Method: literature only
|
INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000025138.5
First in ClinVar: Apr 04, 2013 Last updated: Dec 15, 2018 |
Comment on evidence:
Inflammatory Bowel Disease 1 (Crohn Disease), Susceptibility to In 112 Ashkenazi Jewish patients with Crohn disease (IBD1; 266600), Sugimura et al. (2003) found a novel … (more)
Inflammatory Bowel Disease 1 (Crohn Disease), Susceptibility to In 112 Ashkenazi Jewish patients with Crohn disease (IBD1; 266600), Sugimura et al. (2003) found a novel disease-predisposing variant in the NOD2 gene, IVS8+158, which is a C-to-T mutation in the palindrome sequence in the intron 8 splicing region. The IVS8+158 variant, which the authors designated 'JW1,' occurred on a specific haplotype with a 268S variant, and this combination exhibited a further increased risk (odds ratio = 5.75, p = 0.0005) and the highest population-attributable risk (15.1%) for Crohn disease (CD) among reported disease-predisposing mutations in Jews. However, no association was found between the 268S-JW1 haplotype and disease in 166 non-Jewish white CD patients. Sugimura et al. (2003) concluded that in Ashkenazi Jews, unrecognized population-specific predisposing factor(s) for CD exist on the 268S-JW1 haplotype at the IBD1 locus. In a study of 193 Jewish Israeli CD patients, Karban and Eliakim (2004) failed to replicate the association of the S268P variant or S268P-IVS+158 combination with Crohn disease. Tukel et al. (2004) assessed the haplotypes and allele frequencies of the common NOD2 mutations and variants in 219 members of 50 Ashkenazi Jewish and 53 members of 10 Sephardi/Oriental Jewish multiplex families with CD, in 36 Ashkenazi Jewish patients with sporadic CD, and in 246 Ashkenazi and 82 Sephardi/Oriental Jewish controls, and found no evidence for increased risk associated with the IVS8+158 variant. Blau Syndrome In a 9-month-old Caucasian boy with Blau syndrome (BLAUS; 186580), Borzutzky et al. (2010) identified heterozygosity for the IVS8+158 variant in the NOD2 gene. Borzutzky et al. (2010) stated that this was the first reported case of gastrointestinal granulomas in a patient with early-onset sarcoidosis. Yao Syndrome, Susceptibility to In 7 unrelated patients with multisystem autoinflammatory disease (YAOS; 617321), Yao et al. (2011) identified heterozygosity for the IVS8+158 variant in the NOD2 gene. Four of the patients also carried the R702W mutation in NOD2 (605956.0003). Yao et al. (2011) stated that the clinical relevance of these gene mutations remained to be determined, and that this disease might be genetically complex rather than mendelian. In 22 patients with autoinflammatory disease, including the 7 patients previously studied by Yao et al. (2011), Yao et al. (2013) screened the NOD2 gene and found that all carried at least 1 variant: 21 had the IVS8+158 variant, and 8 had the R702W variant. Yao et al. (2013) noted that the allele frequency of the IVS8+158 variant in the healthy white population had been estimated to be approximately 15% by Sugimura et al. (2003), whereas in an aggregated cohort of 41 patients tested by Yao et al. (2013) for IVS8+158, the variant was detected in approximately 55% of patients (p less than 0.001), all of whom were non-Jewish. Yao et al. (2015) genotyped 143 patients with symptoms suggestive of Yao syndrome for NOD2 variants and identified 54 patients who fulfilled criteria for the disorder, including the presence of NOD2 variants. The IVS8+158 variant was detected in 46 of the 54 patients, including 30 who carried only IVS8+158 and 18 who also carried other known variants, including R702W, 3020insC (605956.0001), and G908R (605956.0002). In addition, 9 other rare NOD2 variants were detected in 13 of the patients. Yao et al. (2015) noted that it remained unclear whether these variants were causative or served as markers indirectly associated with the disease. (less)
|
|
|
Pathogenic
(Apr 01, 2004)
|
no assertion criteria provided
Method: literature only
|
BLAU SYNDROME
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000494282.2
First in ClinVar: Feb 04, 2017 Last updated: Dec 15, 2018 |
Comment on evidence:
Inflammatory Bowel Disease 1 (Crohn Disease), Susceptibility to In 112 Ashkenazi Jewish patients with Crohn disease (IBD1; 266600), Sugimura et al. (2003) found a novel … (more)
Inflammatory Bowel Disease 1 (Crohn Disease), Susceptibility to In 112 Ashkenazi Jewish patients with Crohn disease (IBD1; 266600), Sugimura et al. (2003) found a novel disease-predisposing variant in the NOD2 gene, IVS8+158, which is a C-to-T mutation in the palindrome sequence in the intron 8 splicing region. The IVS8+158 variant, which the authors designated 'JW1,' occurred on a specific haplotype with a 268S variant, and this combination exhibited a further increased risk (odds ratio = 5.75, p = 0.0005) and the highest population-attributable risk (15.1%) for Crohn disease (CD) among reported disease-predisposing mutations in Jews. However, no association was found between the 268S-JW1 haplotype and disease in 166 non-Jewish white CD patients. Sugimura et al. (2003) concluded that in Ashkenazi Jews, unrecognized population-specific predisposing factor(s) for CD exist on the 268S-JW1 haplotype at the IBD1 locus. In a study of 193 Jewish Israeli CD patients, Karban and Eliakim (2004) failed to replicate the association of the S268P variant or S268P-IVS+158 combination with Crohn disease. Tukel et al. (2004) assessed the haplotypes and allele frequencies of the common NOD2 mutations and variants in 219 members of 50 Ashkenazi Jewish and 53 members of 10 Sephardi/Oriental Jewish multiplex families with CD, in 36 Ashkenazi Jewish patients with sporadic CD, and in 246 Ashkenazi and 82 Sephardi/Oriental Jewish controls, and found no evidence for increased risk associated with the IVS8+158 variant. Blau Syndrome In a 9-month-old Caucasian boy with Blau syndrome (BLAUS; 186580), Borzutzky et al. (2010) identified heterozygosity for the IVS8+158 variant in the NOD2 gene. Borzutzky et al. (2010) stated that this was the first reported case of gastrointestinal granulomas in a patient with early-onset sarcoidosis. Yao Syndrome, Susceptibility to In 7 unrelated patients with multisystem autoinflammatory disease (YAOS; 617321), Yao et al. (2011) identified heterozygosity for the IVS8+158 variant in the NOD2 gene. Four of the patients also carried the R702W mutation in NOD2 (605956.0003). Yao et al. (2011) stated that the clinical relevance of these gene mutations remained to be determined, and that this disease might be genetically complex rather than mendelian. In 22 patients with autoinflammatory disease, including the 7 patients previously studied by Yao et al. (2011), Yao et al. (2013) screened the NOD2 gene and found that all carried at least 1 variant: 21 had the IVS8+158 variant, and 8 had the R702W variant. Yao et al. (2013) noted that the allele frequency of the IVS8+158 variant in the healthy white population had been estimated to be approximately 15% by Sugimura et al. (2003), whereas in an aggregated cohort of 41 patients tested by Yao et al. (2013) for IVS8+158, the variant was detected in approximately 55% of patients (p less than 0.001), all of whom were non-Jewish. Yao et al. (2015) genotyped 143 patients with symptoms suggestive of Yao syndrome for NOD2 variants and identified 54 patients who fulfilled criteria for the disorder, including the presence of NOD2 variants. The IVS8+158 variant was detected in 46 of the 54 patients, including 30 who carried only IVS8+158 and 18 who also carried other known variants, including R702W, 3020insC (605956.0001), and G908R (605956.0002). In addition, 9 other rare NOD2 variants were detected in 13 of the patients. Yao et al. (2015) noted that it remained unclear whether these variants were causative or served as markers indirectly associated with the disease. (less)
|
|
|
risk factor
(Apr 01, 2004)
|
no assertion criteria provided
Method: literature only
|
YAO SYNDROME, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000494283.2
First in ClinVar: Feb 04, 2017 Last updated: Dec 15, 2018 |
Comment on evidence:
Inflammatory Bowel Disease 1 (Crohn Disease), Susceptibility to In 112 Ashkenazi Jewish patients with Crohn disease (IBD1; 266600), Sugimura et al. (2003) found a novel … (more)
Inflammatory Bowel Disease 1 (Crohn Disease), Susceptibility to In 112 Ashkenazi Jewish patients with Crohn disease (IBD1; 266600), Sugimura et al. (2003) found a novel disease-predisposing variant in the NOD2 gene, IVS8+158, which is a C-to-T mutation in the palindrome sequence in the intron 8 splicing region. The IVS8+158 variant, which the authors designated 'JW1,' occurred on a specific haplotype with a 268S variant, and this combination exhibited a further increased risk (odds ratio = 5.75, p = 0.0005) and the highest population-attributable risk (15.1%) for Crohn disease (CD) among reported disease-predisposing mutations in Jews. However, no association was found between the 268S-JW1 haplotype and disease in 166 non-Jewish white CD patients. Sugimura et al. (2003) concluded that in Ashkenazi Jews, unrecognized population-specific predisposing factor(s) for CD exist on the 268S-JW1 haplotype at the IBD1 locus. In a study of 193 Jewish Israeli CD patients, Karban and Eliakim (2004) failed to replicate the association of the S268P variant or S268P-IVS+158 combination with Crohn disease. Tukel et al. (2004) assessed the haplotypes and allele frequencies of the common NOD2 mutations and variants in 219 members of 50 Ashkenazi Jewish and 53 members of 10 Sephardi/Oriental Jewish multiplex families with CD, in 36 Ashkenazi Jewish patients with sporadic CD, and in 246 Ashkenazi and 82 Sephardi/Oriental Jewish controls, and found no evidence for increased risk associated with the IVS8+158 variant. Blau Syndrome In a 9-month-old Caucasian boy with Blau syndrome (BLAUS; 186580), Borzutzky et al. (2010) identified heterozygosity for the IVS8+158 variant in the NOD2 gene. Borzutzky et al. (2010) stated that this was the first reported case of gastrointestinal granulomas in a patient with early-onset sarcoidosis. Yao Syndrome, Susceptibility to In 7 unrelated patients with multisystem autoinflammatory disease (YAOS; 617321), Yao et al. (2011) identified heterozygosity for the IVS8+158 variant in the NOD2 gene. Four of the patients also carried the R702W mutation in NOD2 (605956.0003). Yao et al. (2011) stated that the clinical relevance of these gene mutations remained to be determined, and that this disease might be genetically complex rather than mendelian. In 22 patients with autoinflammatory disease, including the 7 patients previously studied by Yao et al. (2011), Yao et al. (2013) screened the NOD2 gene and found that all carried at least 1 variant: 21 had the IVS8+158 variant, and 8 had the R702W variant. Yao et al. (2013) noted that the allele frequency of the IVS8+158 variant in the healthy white population had been estimated to be approximately 15% by Sugimura et al. (2003), whereas in an aggregated cohort of 41 patients tested by Yao et al. (2013) for IVS8+158, the variant was detected in approximately 55% of patients (p less than 0.001), all of whom were non-Jewish. Yao et al. (2015) genotyped 143 patients with symptoms suggestive of Yao syndrome for NOD2 variants and identified 54 patients who fulfilled criteria for the disorder, including the presence of NOD2 variants. The IVS8+158 variant was detected in 46 of the 54 patients, including 30 who carried only IVS8+158 and 18 who also carried other known variants, including R702W, 3020insC (605956.0001), and G908R (605956.0002). In addition, 9 other rare NOD2 variants were detected in 13 of the patients. Yao et al. (2015) noted that it remained unclear whether these variants were causative or served as markers indirectly associated with the disease. (less)
|
Comment:
Comment:
The variant is reported as risk factor for susceptibility to Crohn disease and susceptibility to Yao syndrome in ClinVar (Variation ID: 4697). It is also reported in ClinVar as pathogenic for Blau syndrome in one study for a patient with early-onset sarcoidosis and gastrointestinal granulomas (Borzutzky et al., 2010, PMID: 19467619), although in the article the authors define the variant only as polymorphism related to a susceptibility to Crohn disease. Furthermore, the variant is reported with an estimated allele frequency of 0.052 in 1000 Genomes Project and 0.1018 in gnomAD genomes, with homozygous individuals reported. We have also observed this variant in a large subset of samples without autoinflammatory syndromes at Breda Genetics. Based on the current evidence and high allele frequency, we interpret this variant as likely neutral in regard of pure mendelian inheritance for any form of genetic autoinflammatory syndrome.
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
no known functional consequence
|
Breda Genetics srl
Accession: SCV001190343.1
|
|
Comment:
This variant is associated with the following publications: (PMID: 26164256, 29248579, 28750667, 19426395, 21914217, 23584365, 23102769, 12577202, 24682985)
Comment:
The variant is reported as risk factor for susceptibility to Crohn disease and susceptibility to Yao syndrome in ClinVar (Variation ID: 4697). It is also reported in ClinVar as pathogenic for Blau syndrome in one study for a patient with early-onset sarcoidosis and gastrointestinal granulomas (Borzutzky et al., 2010, PMID: 19467619), although in the article the authors define the variant only as polymorphism related to a susceptibility to Crohn disease. Furthermore, the variant is reported with an estimated allele frequency of 0.052 in 1000 Genomes Project and 0.1018 in gnomAD genomes, with homozygous individuals reported. We have also observed this variant in a large subset of samples without autoinflammatory syndromes at Breda Genetics. Based on the current evidence and high allele frequency, we interpret this variant as likely neutral in regard of pure mendelian inheritance for any form of genetic autoinflammatory syndrome.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| NOD2-associated autoinflammatory disease: a large cohort study. | Yao Q | Rheumatology (Oxford, England) | 2015 | PMID: 26070941 |
| Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. | Yao Q | Journal of the American Academy of Dermatology | 2013 | PMID: 23102769 |
| A new category of autoinflammatory disease associated with NOD2 gene mutations. | Yao Q | Arthritis research & therapy | 2011 | PMID: 21914217 |
| NOD2-associated diseases: Bridging innate immunity and autoinflammation. | Borzutzky A | Clinical immunology (Orlando, Fla.) | 2010 | PMID: 19467619 |
| Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. | Tukel T | American journal of human genetics | 2004 | PMID: 15024686 |
| Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. | Karban A | Gastroenterology | 2004 | PMID: 14765395 |
| A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. | Sugimura K | American journal of human genetics | 2003 | PMID: 12577202 |
Text-mined citations for rs5743289 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.