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rs312262748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262748(A;G)
Make rs312262748(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44620191
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262748
ebirs312262748
HLIrs312262748
Exacrs312262748
Varsomers312262748
Maprs312262748
PheGenIrs312262748
hapmaprs312262748
1000 genomesrs312262748
hgdprs312262748
ensemblrs312262748
gopubmedrs312262748
geneviewrs312262748
scholarrs312262748
googlers312262748
pharmgkbrs312262748
gwascentralrs312262748
openSNPrs312262748
23andMers312262748
23andMe allrs312262748
SNP Nexus

SNPshotrs312262748
SNPdbers312262748
MSV3drs312262748
GWAS Ctlgrs312262748
Max Magnitude0
ClinVar
Risk rs312262748(G;G)
Alt rs312262748(G;G)
Reference rs312262748(A;A)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44912389T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034199.2,


[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.


[PMID 19196735] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.