NM_000070.3(CAPN3):c.1713C>T (p.Leu571=) AND Autosomal recessive limb-girdle muscular dystrophy type 2A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002155519.5
Allele description [Variation Report for NM_000070.3(CAPN3):c.1713C>T (p.Leu571=)]
NM_000070.3(CAPN3):c.1713C>T (p.Leu571=)
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
-
ubiquitin-specific protease 15 [Arabidopsis thaliana]
ubiquitin-specific protease 15 [Arabidopsis thaliana]gi|332191421|gnl|JCVI|AT1G17110.1|g 29542.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024