NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) 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:
- RCV001291357.4
Allele description [Variation Report for NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)]
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
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
-
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Last Updated: Apr 6, 2024