NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) AND Autosomal dominant nonsyndromic hearing loss 17
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001150834.4
Allele description [Variation Report for NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly)]
NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly)
Condition(s)
- Name:
- Autosomal dominant nonsyndromic hearing loss 17
- Synonyms:
- Deafness, autosomal dominant nonsyndromic sensorineural 17; Nonsyndromic hereditary deafness DFNA17; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011350; MedGen: C1863659; Orphanet: 90635; OMIM: 603622
Assertion and evidence details
Last Updated: Apr 9, 2023