ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
CCSER1 | - | - |
GRCh38 GRCh37 |
60 | 104 | |
FAM13A | - | - |
GRCh38 GRCh37 |
66 | 94 | |
FAM13A-AS1 | - | - |
GRCh38 GRCh37 |
- | 24 | |
GPRIN3 | - | - |
GRCh38 GRCh37 |
56 | 86 | |
HERC3 | - | - |
GRCh38 GRCh37 |
34 | 82 | |
HERC5 | - | - |
GRCh38 GRCh37 |
69 | 93 | |
HERC6 | - | - |
GRCh38 GRCh37 |
75 | 99 | |
LOC110121083 | - | - | - | GRCh38 | - | 10 |
LOC111365205 | - | - | - | GRCh38 | - | 8 |
LOC123477786 | - | - | - | GRCh38 | - | 8 |
There are 35 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 20, 2007 | RCV000015046.29 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
NCBI staff developed a representation of this triplication based on annotation of GRCh38 and the placement of CCSER1, PPM1K, and HERC5.