rs80338800
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs80338800(-;-) |
| Make rs80338800(-;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 42387804 |
| Gene | CAPN3, LOC105370794 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338800 |
| dbSNP (classic) | rs80338800 |
| ClinGen | rs80338800 |
| ebi | rs80338800 |
| HLI | rs80338800 |
| Exac | rs80338800 |
| Gnomad | rs80338800 |
| Varsome | rs80338800 |
| LitVar | rs80338800 |
| Map | rs80338800 |
| PheGenI | rs80338800 |
| Biobank | rs80338800 |
| 1000 genomes | rs80338800 |
| hgdp | rs80338800 |
| ensembl | rs80338800 |
| geneview | rs80338800 |
| scholar | rs80338800 |
| rs80338800 | |
| pharmgkb | rs80338800 |
| gwascentral | rs80338800 |
| openSNP | rs80338800 |
| 23andMe | rs80338800 |
| SNPshot | rs80338800 |
| SNPdbe | rs80338800 |
| MSV3d | rs80338800 |
| GWAS Ctlg | rs80338800 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338800(-;-) |
| Alt | rs80338800(-;-) |
| Reference | Rs80338800(A;A) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy not provided Limb-Girdle Muscular Dystrophy EMG: myopathic abnormalities Shoulder girdle muscle weakness Calf muscle hypertrophy Arrhythmia Contractures of the joints of the lower limbs Elbow flexion contracture Muscle weakness Muscular dystrophy Congenital muscular dystrophy |
| Variation | info |
| Gene | CAPN3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2A not provided Limb-Girdle Muscular Dystrophy, Recessive EMG: myopathic abnormalities Shoulder girdle muscle weakness Calf muscle hypertrophy Arrhythmia Contractures of the joints of the lower limbs Elbow flexion contracture Muscle weakness Muscular dystrophy Congenital muscular dystrophy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.42680002delA |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000019188.28, RCV000078099.4, RCV000348995.1, RCV000414969.1, RCV000415100.1, RCV000415344.1, RCV000415373.1, |
[PMID 161007] [Hazards of modern residential and urban areas to child health and development (author's transl)].
[PMID 9266733] A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
[PMID 10679950] High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.
[PMID 14981715] Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
[PMID 15725583] The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.
[PMID 17318636] A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
