ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:154539013-154545901)x2
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 | |||
IKBKG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
118 | 409 | |
G6PD | - | - |
GRCh38 GRCh37 |
636 | 948 | |
LOC108281126 | - | - | - | GRCh38 | - | 116 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 10, 2012 | RCV000139452.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024