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rs312262747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262747(-;-)
Make rs312262747(-;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position44620308
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262747
ebirs312262747
HLIrs312262747
Exacrs312262747
Varsomers312262747
Maprs312262747
PheGenIrs312262747
hapmaprs312262747
1000 genomesrs312262747
hgdprs312262747
ensemblrs312262747
gopubmedrs312262747
geneviewrs312262747
scholarrs312262747
googlers312262747
pharmgkbrs312262747
gwascentralrs312262747
openSNPrs312262747
23andMers312262747
23andMe allrs312262747
SNP Nexus

SNPshotrs312262747
SNPdbers312262747
MSV3drs312262747
GWAS Ctlgrs312262747
Max Magnitude0
ClinVar
Risk rs312262747(;)
Alt rs312262747(;)
Reference rs312262747(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44912506delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034198.2,


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