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rs312262777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262777(-;-)
Make rs312262777(-;T)
Make rs312262777(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44574915
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262777
ebirs312262777
HLIrs312262777
Exacrs312262777
Varsomers312262777
Maprs312262777
PheGenIrs312262777
hapmaprs312262777
1000 genomesrs312262777
hgdprs312262777
ensemblrs312262777
gopubmedrs312262777
geneviewrs312262777
scholarrs312262777
googlers312262777
pharmgkbrs312262777
gwascentralrs312262777
openSNPrs312262777
23andMers312262777
23andMe allrs312262777
SNP Nexus

SNPshotrs312262777
SNPdbers312262777
MSV3drs312262777
GWAS Ctlgrs312262777
Max Magnitude0
ClinVar
Risk rs312262777(T;T)
Alt rs312262777(T;T)
Reference rs312262777(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44867114dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034240.2,


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