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rs121908137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908137(C;T)
Make rs121908137(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201726854
GeneALS2
is asnp
is mentioned by
dbSNPrs121908137
ebirs121908137
HLIrs121908137
Exacrs121908137
Varsomers121908137
Maprs121908137
PheGenIrs121908137
hapmaprs121908137
1000 genomesrs121908137
hgdprs121908137
ensemblrs121908137
gopubmedrs121908137
geneviewrs121908137
scholarrs121908137
googlers121908137
pharmgkbrs121908137
gwascentralrs121908137
openSNPrs121908137
23andMers121908137
23andMe allrs121908137
SNP Nexus

SNPshotrs121908137
SNPdbers121908137
MSV3drs121908137
GWAS Ctlgrs121908137
Max Magnitude0
OMIM606352
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908137(A,T;A,T)
Alt rs121908137(A,T;A,T)
Reference rs121908137(C;C)
Significance Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis
Reversed 1
HGVS NC_000002.11:g.202591577G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004663.6,


[PMID 12919135] The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.