Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Trp24Ter (p.W24*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Trp24Ter (p.W24*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratoderma-deafness syndrome
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Palmoplantar keratoderma-deafness syndrome
- ClinVar Allele ID
- 32041
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.71G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003388568
- ClinVar Disease
- Palmoplantar keratoderma-deafness syndrome
- Observed Origin Sample
- germline
Drugs