NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487286.3
Allele description [Variation Report for NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)]
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)
Condition(s)
- Name:
- Cataract 41 (CTRCT41)
- Synonyms:
- CATARACT 41, CONGENITAL NUCLEAR TYPE
- Identifiers:
- MONDO: MONDO:0007287; MedGen: C3805412; Orphanet: 91492; Orphanet: 98991; Orphanet: 98992; Orphanet: 98995; OMIM: 116400
- 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
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Assertion and evidence details
Last Updated: Sep 29, 2024