NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002514109.10
Allele description [Variation Report for NM_004004.6(GJB2):c.109G>A (p.Val37Ile)]
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024