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rs121909667

From SNPedia

OMIM 137070

Amyotrophic Lateral Sclerosis 6

Lattante et al. (2013) provided a review of FUS mutations associated with amyotrophic lateral sclerosis (ALS6; 608030). FUS mutations occur in about 5% of patients with familial ALS and in 1% of patients with sporadic disease.

137070.0001 AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE FUS, HIS517GLN rs121909667

In 4 affected members of a consanguineous family with amyotrophic lateral sclerosis-6 (ALS6; 608030), Kwiatkowski et al. (2009) identified a homozygous 1551C-G transversion in exon 15 of the FUS gene, resulting in a his517-to-gln (H517Q) substitution. The family originated from Cape Verde, a small island off the western coast of Africa. Three asymptomatic family members were also homozygous for the mutation, but all were younger than the mean age at disease onset of 45 years. The mutation was not detected in 1,446 control DNA samples from North America; 1 heterozygote was observed in 132 chromosomes from Cape Verde.


Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 6 Causing ALS AMYOTROPHIC LATERAL SCLEROSIS
Make rs121909667(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position31191408
GeneFUS
is asnp
is mentioned by
dbSNPrs121909667
dbSNP (classic)rs121909667
ClinGenrs121909667
ebirs121909667
HLIrs121909667
Exacrs121909667
Gnomadrs121909667
Varsomers121909667
LitVarrs121909667
Maprs121909667
PheGenIrs121909667
Biobankrs121909667
1000 genomesrs121909667
hgdprs121909667
ensemblrs121909667
geneviewrs121909667
scholarrs121909667
googlers121909667
pharmgkbrs121909667
gwascentralrs121909667
openSNPrs121909667
23andMers121909667
SNPshotrs121909667
SNPdbers121909667
MSV3drs121909667
GWAS Ctlgrs121909667
Max Magnitude6
OMIM137070
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs121909667(G;G)
Alt Rs121909667(G;G)
Reference Rs121909667(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 6
Variation info
Gene FUS
CLNDBN Amyotrophic lateral sclerosis 6, autosomal recessive
Reversed 0
HGVS NC_000016.9:g.31202729C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017608.29,