rs28937900
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Limb-girdle muscular dystrophy-dystroglycanopathy |
| (A;C) | 3 | carrier for Limb-girdle muscular dystrophy-dystroglycanopathy |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 46756276 |
| Gene | FKRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937900 |
| dbSNP (classic) | rs28937900 |
| ClinGen | rs28937900 |
| ebi | rs28937900 |
| HLI | rs28937900 |
| Exac | rs28937900 |
| Gnomad | rs28937900 |
| Varsome | rs28937900 |
| LitVar | rs28937900 |
| Map | rs28937900 |
| PheGenI | rs28937900 |
| Biobank | rs28937900 |
| 1000 genomes | rs28937900 |
| hgdp | rs28937900 |
| ensembl | rs28937900 |
| geneview | rs28937900 |
| scholar | rs28937900 |
| rs28937900 | |
| pharmgkb | rs28937900 |
| gwascentral | rs28937900 |
| openSNP | rs28937900 |
| 23andMe | rs28937900 |
| SNPshot | rs28937900 |
| SNPdbe | rs28937900 |
| MSV3d | rs28937900 |
| GWAS Ctlg | rs28937900 |
| Max Magnitude | 5 |
rs28937900, also known as c.826C>A, p.Leu276Ile and L276I, represents a rare variant in the FKRP gene.
Inherited recessively, it is considered pathogenic by multiple submitters to ClinVar for a type of Limb-girdle muscular dystrophy-dystroglycanopathy.
| ClinVar | |
|---|---|
| Risk | Rs28937900(A;A) |
| Alt | Rs28937900(A;A) |
| Reference | Rs28937900(C;C) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy-dystroglycanopathy not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg congenital muscular dystrophy |
| Variation | info |
| Gene | FKRP |
| CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg congenital muscular dystrophy |
| Reversed | 0 |
| HGVS | NC_000019.9:g.47259533C>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004442.4, RCV000082182.7, RCV000178341.2, RCV000178342.2, RCV000226653.1, RCV000231711.2, |
