NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) AND Autosomal recessive nonsyndromic hearing loss 36
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000477776.2
Allele description [Variation Report for NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)]
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 36
- Synonyms:
- Deafness, autosomal recessive 36, with or without vestibular involvement; DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH VESTIBULAR INVOLVEMENT; Deafness, autosomal recessive 36
- Identifiers:
- MONDO: MONDO:0012170; MedGen: C1837007; Orphanet: 90636; OMIM: 609006
Assertion and evidence details
Last Updated: Sep 29, 2024