NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) AND Autosomal recessive limb-girdle muscular dystrophy type 2A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000798205.4
Allele description [Variation Report for NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)]
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
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
-
Leuconostoc mesenteroides strain Ln2 genomic sequence
Leuconostoc mesenteroides strain Ln2 genomic sequencegi|1928004358|gb|MT799688.1|Nucleotide
-
Profile neighbors for GEO Profiles (Select 108832759) (4)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 108829833) (20)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 23, 2024