NM_005982.4(SIX1):c.533G>C (p.Arg178Thr) AND Unilateral deafness
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002286438.1
Allele description [Variation Report for NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)]
NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)
Condition(s)
- Name:
- Unilateral deafness
- Identifiers:
- MONDO: MONDO:0007426; MedGen: C2607947; OMIM: 125000; Human Phenotype Ontology: HP:0009900
-
28455[HGNC] (73)
ClinVar
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Last Updated: Dec 24, 2023