rs312262751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs312262751(-;T) |
Make rs312262751(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 44615552 |
is a | snp |
is | mentioned by |
dbSNP | rs312262751 |
dbSNP (classic) | rs312262751 |
ClinGen | rs312262751 |
ebi | rs312262751 |
HLI | rs312262751 |
Exac | rs312262751 |
Gnomad | rs312262751 |
Varsome | rs312262751 |
LitVar | rs312262751 |
Map | rs312262751 |
PheGenI | rs312262751 |
Biobank | rs312262751 |
1000 genomes | rs312262751 |
hgdp | rs312262751 |
ensembl | rs312262751 |
geneview | rs312262751 |
scholar | rs312262751 |
rs312262751 | |
pharmgkb | rs312262751 |
gwascentral | rs312262751 |
openSNP | rs312262751 |
23andMe | rs312262751 |
SNPshot | rs312262751 |
SNPdbe | rs312262751 |
MSV3d | rs312262751 |
GWAS Ctlg | rs312262751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262751(T;T) |
Alt | rs312262751(T;T) |
Reference | Rs312262751(-;-) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive |
Reversed | 0 |
HGVS | NC_000015.9:g.44907750dupA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034202.2, |
[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.