Annotation Detail

Information
Associated Genes
GJB2
Associated Variants
NC_000013.11:g.20193170A>G
NC_000013.11:g.20193170A>G
Associated Disease
not provided
Source Database
ClinVar
Description
NC_000013.11:g.20193170A>G AND not provided
ClinVar Allele ID
1226133
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-11-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001619352
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs