NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter) AND Autosomal recessive limb-girdle muscular dystrophy type 2D
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472659.1
Allele description [Variation Report for NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)]
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMDR3)
- Synonyms:
- ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099
Assertion and evidence details
Last Updated: Dec 30, 2023