Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.His73Arg (p.H73R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.His73Arg (p.H73R) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratoderma-deafness syndrome
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.218A>G (p.His73Arg) AND Palmoplantar keratoderma-deafness syndrome
- ClinVar Allele ID
- 32076
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.218A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-04-17
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018565
- ClinVar Disease
- Palmoplantar keratoderma-deafness syndrome
- Observed Origin Sample
- germline
- Pubmed
- 10218527
Drugs