NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Autosomal dominant nonsyndromic hearing loss 3A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409236.11
Allele description [Variation Report for NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)]
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
Condition(s)
Assertion and evidence details
Last Updated: Aug 25, 2024