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rs121908139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908139(C;T)
Make rs121908139(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201744285
GeneALS2
is asnp
is mentioned by
dbSNPrs121908139
ebirs121908139
HLIrs121908139
Exacrs121908139
Varsomers121908139
Maprs121908139
PheGenIrs121908139
hapmaprs121908139
1000 genomesrs121908139
hgdprs121908139
ensemblrs121908139
gopubmedrs121908139
geneviewrs121908139
scholarrs121908139
googlers121908139
pharmgkbrs121908139
gwascentralrs121908139
openSNPrs121908139
23andMers121908139
23andMe allrs121908139
SNP Nexus

SNPshotrs121908139
SNPdbers121908139
MSV3drs121908139
GWAS Ctlgrs121908139
Max Magnitude0
OMIM606352
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908139(T;T)
Alt rs121908139(T;T)
Reference rs121908139(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.202609008G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004667.5,


[PMID 18523452] Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.