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rs312262775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262775(-;-)
Make rs312262775(-;T)
Make rs312262775(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44574921
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262775
ebirs312262775
HLIrs312262775
Exacrs312262775
Varsomers312262775
Maprs312262775
PheGenIrs312262775
hapmaprs312262775
1000 genomesrs312262775
hgdprs312262775
ensemblrs312262775
gopubmedrs312262775
geneviewrs312262775
scholarrs312262775
googlers312262775
pharmgkbrs312262775
gwascentralrs312262775
openSNPrs312262775
23andMers312262775
23andMe allrs312262775
SNP Nexus

SNPshotrs312262775
SNPdbers312262775
MSV3drs312262775
GWAS Ctlgrs312262775
Max Magnitude0
ClinVar
Risk rs312262775(CTCTG,TG;CTCTG,TG)
Alt rs312262775(CTCTG,TG;CTCTG,TG)
Reference rs312262775(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44867120dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034237.2,


[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.


[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.