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rs312262770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262770(-;-)
Make rs312262770(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44583911
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262770
ebirs312262770
HLIrs312262770
Exacrs312262770
Varsomers312262770
Maprs312262770
PheGenIrs312262770
hapmaprs312262770
1000 genomesrs312262770
hgdprs312262770
ensemblrs312262770
gopubmedrs312262770
geneviewrs312262770
scholarrs312262770
googlers312262770
pharmgkbrs312262770
gwascentralrs312262770
openSNPrs312262770
23andMers312262770
23andMe allrs312262770
SNP Nexus

SNPshotrs312262770
SNPdbers312262770
MSV3drs312262770
GWAS Ctlgrs312262770
Max Magnitude0
ClinVar
Risk rs312262770(;)
Alt rs312262770(;)
Reference rs312262770(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876109delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034228.2,


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


[PMID 18337587OA-icon.png] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.