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rs312262741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs312262741(-;-)
Make rs312262741(-;AG)
Make rs312262741(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome15
Position44622308
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262741
ebirs312262741
HLIrs312262741
Exacrs312262741
Varsomers312262741
Maprs312262741
PheGenIrs312262741
hapmaprs312262741
1000 genomesrs312262741
hgdprs312262741
ensemblrs312262741
gopubmedrs312262741
geneviewrs312262741
scholarrs312262741
googlers312262741
pharmgkbrs312262741
gwascentralrs312262741
openSNPrs312262741
23andMers312262741
23andMe allrs312262741
SNP Nexus

SNPshotrs312262741
SNPdbers312262741
MSV3drs312262741
GWAS Ctlgrs312262741
Max Magnitude0
ClinVar
Risk rs312262741(;)
Alt rs312262741(;)
Reference rs312262741(GA;GA)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44914506_44914507delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034190.2,


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