NM_024009.3(GJB3):c.497A>G (p.Asn166Ser) AND Deafness, digenic, GJB2/GJB3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006865.3
Allele description [Variation Report for NM_024009.3(GJB3):c.497A>G (p.Asn166Ser)]
NM_024009.3(GJB3):c.497A>G (p.Asn166Ser)
Condition(s)
- Name:
- Deafness, digenic, GJB2/GJB3
- Identifiers:
- MedGen: C2673761
Assertion and evidence details
Last Updated: Aug 15, 2022