NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr) AND Autosomal recessive limb-girdle muscular dystrophy type 2A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001117730.4
Allele description [Variation Report for NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr)]
NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2A; Limb-girdle muscular dystrophy type 2; Muscular dystrophy, pelvofemoral; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009675; MedGen: C1869123; Orphanet: 267; OMIM: 253600
-
DNA-binding response regulator [uncultured organism]
DNA-binding response regulator [uncultured organism]gi|1578915075|emb|VDS02696.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023