NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) 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:
- RCV001291495.1
Allele description [Variation Report for NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)]
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
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: Dec 24, 2023