NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND Hearing impairment
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146012.6
Allele description [Variation Report for NM_004004.6(GJB2):c.250G>C (p.Val84Leu)]
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Assertion and evidence details
Last Updated: Aug 25, 2024