ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
FREM3 | - | - |
GRCh38 GRCh37 |
152 | 183 | |
GAB1 | - | - |
GRCh38 GRCh37 |
33 | 79 | |
LOC112939919 | - | - | - | GRCh38 | - | 10 |
LOC126807172 | - | - | - | GRCh38 | - | 22 |
LOC129993134 | - | - | - | GRCh38 | - | 10 |
LOC129993135 | - | - | - | GRCh38 | - | 10 |
LOC129993136 | - | - | - | GRCh38 | - | 16 |
LOC129993137 | - | - | - | GRCh38 | - | 10 |
LOC129993138 | - | - | - | GRCh38 | - | 10 |
LOC129993139 | - | - | - | GRCh38 | - | 10 |
There are 15 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000140395.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023