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rs267607084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607084(C;T)
Make rs267607084(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44663530
GeneSPG11
is asnp
is mentioned by
dbSNPrs267607084
ebirs267607084
HLIrs267607084
Exacrs267607084
Varsomers267607084
Maprs267607084
PheGenIrs267607084
hapmaprs267607084
1000 genomesrs267607084
hgdprs267607084
ensemblrs267607084
gopubmedrs267607084
geneviewrs267607084
scholarrs267607084
googlers267607084
pharmgkbrs267607084
gwascentralrs267607084
openSNPrs267607084
23andMers267607084
23andMe allrs267607084
SNP Nexus

SNPshotrs267607084
SNPdbers267607084
MSV3drs267607084
GWAS Ctlgrs267607084
Max Magnitude0
ClinVar
Risk rs267607084(T;T)
Alt rs267607084(T;T)
Reference rs267607084(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease, axonal type 2X
Reversed 1
HGVS NC_000015.9:g.44955728G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001170.7, RCV000193032.4, RCV000202382.2,


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


[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.