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, |