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rs312262755

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262755(-;-)
Make rs312262755(-;T)
Make rs312262755(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44600488
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262755
ebirs312262755
HLIrs312262755
Exacrs312262755
Varsomers312262755
Maprs312262755
PheGenIrs312262755
hapmaprs312262755
1000 genomesrs312262755
hgdprs312262755
ensemblrs312262755
gopubmedrs312262755
geneviewrs312262755
scholarrs312262755
googlers312262755
pharmgkbrs312262755
gwascentralrs312262755
openSNPrs312262755
23andMers312262755
23andMe allrs312262755
SNP Nexus

SNPshotrs312262755
SNPdbers312262755
MSV3drs312262755
GWAS Ctlgrs312262755
Max Magnitude0
ClinVar
Risk rs312262755(T;T)
Alt rs312262755(T;T)
Reference rs312262755(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44892686_44892687insA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034210.2,


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