Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Trp (p.R75W)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratoderma-deafness syndrome
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND Palmoplantar keratoderma-deafness syndrome
- ClinVar Allele ID
- 32050
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.223C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-04-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001799506
- ClinVar Disease
- Palmoplantar keratoderma-deafness syndrome
- Observed Origin Sample
- de novo
Drugs