ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
EMD | - | - |
GRCh38 GRCh37 |
536 | 796 | |
LOC107988033 | - | - | - | GRCh38 | - | 113 |
LOC130068862 | - | - | - | GRCh38 | - | 114 |
LOC130068863 | - | - | - | GRCh38 | - | 114 |
LOC130068864 | - | - | - | GRCh38 | - | 115 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327651.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024