rs312262781
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTGA;TTGA) | 0 | common in clinvar |
Make rs312262781(-;-) |
Make rs312262781(-;TTGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 44567438 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs312262781 |
dbSNP (classic) | rs312262781 |
ClinGen | rs312262781 |
ebi | rs312262781 |
HLI | rs312262781 |
Exac | rs312262781 |
Gnomad | rs312262781 |
Varsome | rs312262781 |
LitVar | rs312262781 |
Map | rs312262781 |
PheGenI | rs312262781 |
Biobank | rs312262781 |
1000 genomes | rs312262781 |
hgdp | rs312262781 |
ensembl | rs312262781 |
geneview | rs312262781 |
scholar | rs312262781 |
rs312262781 | |
pharmgkb | rs312262781 |
gwascentral | rs312262781 |
openSNP | rs312262781 |
23andMe | rs312262781 |
SNPshot | rs312262781 |
SNPdbe | rs312262781 |
MSV3d | rs312262781 |
GWAS Ctlg | rs312262781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262781(-;-) |
Alt | rs312262781(-;-) |
Reference | Rs312262781(TTGA;TTGA) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 not provided |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.44859636_44859639delTCAA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034248.2, RCV000416215.1, |
[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.