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rs118203963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203963(C;T)
Make rs118203963(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44573652
GeneSPG11
is asnp
is mentioned by
dbSNPrs118203963
ebirs118203963
HLIrs118203963
Exacrs118203963
Varsomers118203963
Maprs118203963
PheGenIrs118203963
hapmaprs118203963
1000 genomesrs118203963
hgdprs118203963
ensemblrs118203963
gopubmedrs118203963
geneviewrs118203963
scholarrs118203963
googlers118203963
pharmgkbrs118203963
gwascentralrs118203963
openSNPrs118203963
23andMers118203963
23andMe allrs118203963
SNP Nexus

SNPshotrs118203963
SNPdbers118203963
MSV3drs118203963
GWAS Ctlgrs118203963
Max Magnitude0
OMIM610844
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203963(G,T;G,T)
Alt rs118203963(G,T;G,T)
Reference rs118203963(C;C)
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.44865850G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001168.6, RCV000202373.2,


[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.


[PMID 18332254] Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.


[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.


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