rs398123555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 3 | Carrier of a Fukuyama congenital muscular dystrophy mutation |
Make rs398123555(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 105620056 |
Gene | FKTN |
is a | snp |
is | mentioned by |
dbSNP | rs398123555 |
dbSNP (classic) | rs398123555 |
ClinGen | rs398123555 |
ebi | rs398123555 |
HLI | rs398123555 |
Exac | rs398123555 |
Gnomad | rs398123555 |
Varsome | rs398123555 |
LitVar | rs398123555 |
Map | rs398123555 |
PheGenI | rs398123555 |
Biobank | rs398123555 |
1000 genomes | rs398123555 |
hgdp | rs398123555 |
ensembl | rs398123555 |
geneview | rs398123555 |
scholar | rs398123555 |
rs398123555 | |
pharmgkb | rs398123555 |
gwascentral | rs398123555 |
openSNP | rs398123555 |
23andMe | rs398123555 |
SNPshot | rs398123555 |
SNPdbe | rs398123555 |
MSV3d | rs398123555 |
GWAS Ctlg | rs398123555 |
Max Magnitude | 3 |
aka c.1167dupA (p.Phe390Ilefs)
ClinVar | |
---|---|
Risk | rs398123555(A;A) |
Alt | rs398123555(A;A) |
Reference | Rs398123555(-;-) |
Significance | Pathogenic |
Disease | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Limb-girdle muscular dystrophy-dystroglycanopathy not provided Fukuyama congenital muscular dystrophy |
Variation | info |
Gene | FKTN |
CLNDBN | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 not provided Fukuyama congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000009.11:g.108382337dupA |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000003356.3, RCV000003357.4, RCV000079427.5, RCV000411292.1, |