NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly) AND Autosomal recessive limb-girdle muscular dystrophy type 2A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003070852.2
Allele description [Variation Report for NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)]
NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)
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
-
603494 (1)
OMIM
-
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Tr...
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Transforming growth factor-beta-activated kinase 1; Short=TGF-beta-activated kinase 1gi|12643557|sp|O43318.1|M3K7_HUMANProtein
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Last Updated: Sep 29, 2024