NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys) AND Welander distal myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001060248.5
Allele description [Variation Report for NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)]
NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)
Condition(s)
- Name:
- Welander distal myopathy (WDM)
- Synonyms:
- MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT; Gower's muscular dystrophy; Welander distal myopathy, Swedish type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011466; MedGen: C0221054; Orphanet: 603; OMIM: 604454
Assertion and evidence details
Last Updated: Feb 20, 2024