NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000709886.3
Allele description [Variation Report for NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)]
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
Condition(s)
- Name:
- Wolfram syndrome 1 (WFS1)
- Identifiers:
- MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300
- Name:
- Autosomal dominant nonsyndromic hearing loss 6 (LFSNHL)
- Synonyms:
- DEAFNESS, AUTOSOMAL DOMINANT 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010963; MedGen: C1833021; Orphanet: 90635; OMIM: 600965
Assertion and evidence details
Last Updated: Sep 29, 2024