Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp50Asn (p.D50N)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Mutilating keratoderma
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Mutilating keratoderma
- ClinVar Allele ID
- 32059
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.148G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002247355
- ClinVar Disease
- Mutilating keratoderma
- Observed Origin Sample
- germline
Drugs