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rs312262716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATATT;ATATT) 0 common in clinvar
Make rs312262716(-;-)
Make rs312262716(-;ATATT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44659213
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262716
ebirs312262716
HLIrs312262716
Exacrs312262716
Varsomers312262716
Maprs312262716
PheGenIrs312262716
hapmaprs312262716
1000 genomesrs312262716
hgdprs312262716
ensemblrs312262716
gopubmedrs312262716
geneviewrs312262716
scholarrs312262716
googlers312262716
pharmgkbrs312262716
gwascentralrs312262716
openSNPrs312262716
23andMers312262716
23andMe allrs312262716
SNP Nexus

SNPshotrs312262716
SNPdbers312262716
MSV3drs312262716
GWAS Ctlgrs312262716
Max Magnitude0
ClinVar
Risk rs312262716(;)
Alt rs312262716(;)
Reference rs312262716(ATATT;ATATT)
Significance Pathogenic
Disease Spastic paraplegia 11 Charcot-Marie-Tooth disease
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive Charcot-Marie-Tooth disease, axonal type 2X
Reversed 1
HGVS NC_000015.9:g.44951411_44951415delAATAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001169.6, RCV000202378.2,


[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.