ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
DCHS2 | - | - |
GRCh38 GRCh38 GRCh37 |
191 | 224 | |
FGA | - | - |
GRCh38 GRCh37 |
219 | 251 | |
FGB | - | - |
GRCh38 GRCh37 |
202 | 234 | |
FGG | - | - |
GRCh38 GRCh37 |
143 | 177 | |
LOC105377500 | - | - | - | GRCh38 | - | 12 |
LOC110121190 | - | - | - | GRCh38 | - | 12 |
LOC114827822 | - | - | - | GRCh38 | - | 13 |
LOC121056746 | - | - | - | GRCh38 | - | 11 |
LOC121725190 | - | - | - |
GRCh38 GRCh38 |
- | 12 |
LOC121725191 | - | - | - | GRCh38 | - | 12 |
There are 30 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053324.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024