NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) AND Hearing loss, autosomal recessive
- 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:
- RCV001291459.1
Allele description [Variation Report for NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)]
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
Condition(s)
- Name:
- Hearing loss, autosomal recessive
- Synonyms:
- Deafness, autosomal recessive; Autosomal recessive nonsyndromic deafness; Autosomal recessive non-syndromic sensorineural deafness type DFNB
- Identifiers:
- MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290
Assertion and evidence details
Last Updated: Jun 1, 2022