NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Sensorineural hearing loss disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001175247.2
Allele description [Variation Report for NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)]
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
Condition(s)
- Name:
- Sensorineural hearing loss disorder
- Synonyms:
- Sensorineural hearing loss; Sensorineural hearing impairment
- Identifiers:
- MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407
Assertion and evidence details
Last Updated: Sep 29, 2024