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rs312262763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262763(-;-)
Make rs312262763(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584425
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262763
ebirs312262763
HLIrs312262763
Exacrs312262763
Varsomers312262763
Maprs312262763
PheGenIrs312262763
hapmaprs312262763
1000 genomesrs312262763
hgdprs312262763
ensemblrs312262763
gopubmedrs312262763
geneviewrs312262763
scholarrs312262763
googlers312262763
pharmgkbrs312262763
gwascentralrs312262763
openSNPrs312262763
23andMers312262763
23andMe allrs312262763
SNP Nexus

SNPshotrs312262763
SNPdbers312262763
MSV3drs312262763
GWAS Ctlgrs312262763
Max Magnitude0
ClinVar
Risk rs312262763(;)
Alt rs312262763(;)
Reference rs312262763(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876623delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034221.2,


[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.