Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Gln (p.R75Q)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratoderma-deafness syndrome
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Palmoplantar keratoderma-deafness syndrome
- ClinVar Allele ID
- 32066
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.224G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-08-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018554
- ClinVar Disease
- Palmoplantar keratoderma-deafness syndrome
- Observed Origin Sample
- germline
- Pubmed
- 12372058
- Pubmed
- 16059934
- Pubmed
- 15996214
Drugs