ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq26.2(chrX:131386373-131936963)x2
Germline
Classification
(1)
Likely benign
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 | |||
FIRRE | - | - | GRCh38 | - | 88 | |
LOC113875010 | - | - | - | GRCh38 | - | 87 |
LOC113875011 | - | - | - | GRCh38 | - | 88 |
LOC121627979 | - | - | - | GRCh38 | - | 84 |
LOC121627980 | - | - | - | GRCh38 | - | 87 |
LOC121627981 | - | - | - | GRCh38 | - | 88 |
LOC126863319 | - | - | - | GRCh38 | - | 84 |
LOC129391314 | - | - | - | GRCh38 | - | 87 |
LOC130068690 | - | - | - | GRCh38 | 1 | 87 |
LOC130068691 | - | - | - | GRCh38 | - | 87 |
There are 20 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 |
---|---|---|---|---|
Likely benign (1) |
|
May 19, 2011 | RCV000137530.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024