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rs312262742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262742(G;T)
Make rs312262742(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44622220
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262742
ebirs312262742
HLIrs312262742
Exacrs312262742
Varsomers312262742
Maprs312262742
PheGenIrs312262742
hapmaprs312262742
1000 genomesrs312262742
hgdprs312262742
ensemblrs312262742
gopubmedrs312262742
geneviewrs312262742
scholarrs312262742
googlers312262742
pharmgkbrs312262742
gwascentralrs312262742
openSNPrs312262742
23andMers312262742
23andMe allrs312262742
SNP Nexus

SNPshotrs312262742
SNPdbers312262742
MSV3drs312262742
GWAS Ctlgrs312262742
Max Magnitude0
ClinVar
Risk rs312262742(T;T)
Alt rs312262742(T;T)
Reference rs312262742(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.44914418C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034192.2,


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