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rs312262722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262722(-;-)
Make rs312262722(-;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position44651744
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262722
ebirs312262722
HLIrs312262722
Exacrs312262722
Varsomers312262722
Maprs312262722
PheGenIrs312262722
hapmaprs312262722
1000 genomesrs312262722
hgdprs312262722
ensemblrs312262722
gopubmedrs312262722
geneviewrs312262722
scholarrs312262722
googlers312262722
pharmgkbrs312262722
gwascentralrs312262722
openSNPrs312262722
23andMers312262722
23andMe allrs312262722
SNP Nexus

SNPshotrs312262722
SNPdbers312262722
MSV3drs312262722
GWAS Ctlgrs312262722
Max Magnitude0
ClinVar
Risk rs312262722(;)
Alt rs312262722(;)
Reference rs312262722(A;A)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44943942delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034169.2,


[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.


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