NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) AND Hearing loss
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2006
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678862.1
Allele description [Variation Report for NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)]
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
Condition(s)
- Name:
- Hearing loss
- Identifiers:
- MedGen: C3887873
Assertion and evidence details
Last Updated: Oct 26, 2024