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rs312262752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262752(-;-)
Make rs312262752(-;A)
Make rs312262752(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position44613499
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262752
ebirs312262752
HLIrs312262752
Exacrs312262752
Varsomers312262752
Maprs312262752
PheGenIrs312262752
hapmaprs312262752
1000 genomesrs312262752
hgdprs312262752
ensemblrs312262752
gopubmedrs312262752
geneviewrs312262752
scholarrs312262752
googlers312262752
pharmgkbrs312262752
gwascentralrs312262752
openSNPrs312262752
23andMers312262752
23andMe allrs312262752
SNP Nexus

SNPshotrs312262752
SNPdbers312262752
MSV3drs312262752
GWAS Ctlgrs312262752
Max Magnitude0
ClinVar
Risk rs312262752(A;A)
Alt rs312262752(A;A)
Reference rs312262752(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44905698dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001176.5,


[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.


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