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rs312262781

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTGA;TTGA) 0 common in clinvar
Make rs312262781(-;-)
Make rs312262781(-;TTGA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44567438
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262781
ebirs312262781
HLIrs312262781
Exacrs312262781
Varsomers312262781
Maprs312262781
PheGenIrs312262781
hapmaprs312262781
1000 genomesrs312262781
hgdprs312262781
ensemblrs312262781
gopubmedrs312262781
geneviewrs312262781
scholarrs312262781
googlers312262781
pharmgkbrs312262781
gwascentralrs312262781
openSNPrs312262781
23andMers312262781
23andMe allrs312262781
SNP Nexus

SNPshotrs312262781
SNPdbers312262781
MSV3drs312262781
GWAS Ctlgrs312262781
Max Magnitude0
ClinVar
Risk rs312262781(;)
Alt rs312262781(;)
Reference rs312262781(TTGA;TTGA)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44859636_44859639delTCAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034248.2,


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