NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) AND X-linked mixed hearing loss with perilymphatic gusher
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001166661.4
Allele description [Variation Report for NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)]
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)
Condition(s)
- Name:
- X-linked mixed hearing loss with perilymphatic gusher
- Synonyms:
- Deafness, X-linked 2; Deafness conductive with stapes fixation; Deafness 3 conductive with stapes fixation; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010576; MedGen: C1844678; Orphanet: 383; OMIM: 304400
Assertion and evidence details
Last Updated: Jul 16, 2023