ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq24(chrX:119249519-119495781)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 | |||
LINC03098 | - | - | - | GRCh38 | - | 81 |
LOC125467776 | - | - | - | GRCh38 | - | 80 |
LOC125467777 | - | - | - | GRCh38 | - | 80 |
LOC130068589 | - | - | - | GRCh38 | - | 80 |
LOC130068590 | - | - | - | GRCh38 | - | 87 |
LOC130068591 | - | - | - | GRCh38 | - | 80 |
LOC130068592 | - | - | - | GRCh38 | - | 80 |
LOC130068593 | - | - | - | GRCh38 | - | 80 |
LOC130068594 | - | - | - | GRCh38 | - | 80 |
SLC25A43 | - | - |
GRCh38 GRCh37 |
15 | 193 |
There are 2 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) |
|
Dec 17, 2012 | RCV000140821.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024