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rs312262751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262751(-;-)
Make rs312262751(-;T)
Make rs312262751(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44615551
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262751
ebirs312262751
HLIrs312262751
Exacrs312262751
Varsomers312262751
Maprs312262751
PheGenIrs312262751
hapmaprs312262751
1000 genomesrs312262751
hgdprs312262751
ensemblrs312262751
gopubmedrs312262751
geneviewrs312262751
scholarrs312262751
googlers312262751
pharmgkbrs312262751
gwascentralrs312262751
openSNPrs312262751
23andMers312262751
23andMe allrs312262751
SNP Nexus

SNPshotrs312262751
SNPdbers312262751
MSV3drs312262751
GWAS Ctlgrs312262751
Max Magnitude0
ClinVar
Risk rs312262751(T;T)
Alt rs312262751(T;T)
Reference rs312262751(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.10:g.44615552dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034202.2,


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