Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp66His (p.D66H)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp66His (p.D66H) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Mutilating keratoderma
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.196G>C (p.Asp66His) AND Mutilating keratoderma
- Pubmed
- 9326398
- Pubmed
- 19986602
- Pubmed
- 10369869
- ClinVar Allele ID
- 32051
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.196G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018536
- ClinVar Disease
- Mutilating keratoderma
- Observed Origin Sample
- germline
Drugs