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rs779990936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.8 Methylmalonic aciduria (predicted)
(A;G) 3 Carrier for a methylmalonic aciduria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49431802
GeneMUT
is asnp
is mentioned by
dbSNPrs779990936
dbSNP (old)rs779990936
ClinGenrs779990936
ebirs779990936
HLIrs779990936
Exacrs779990936
Gnomadrs779990936
Varsomers779990936
Maprs779990936
PheGenIrs779990936
Biobankrs779990936
1000 genomesrs779990936
hgdprs779990936
ensemblrs779990936
gopubmedrs779990936
geneviewrs779990936
scholarrs779990936
googlers779990936
pharmgkbrs779990936
gwascentralrs779990936
openSNPrs779990936
23andMers779990936
23andMe allrs779990936
SNP Nexus

SNPshotrs779990936
SNPdbers779990936
MSV3drs779990936
GWAS Ctlgrs779990936
Max Magnitude8.8

aka c.2179C>T, p.Arg727Ter or R727X; pathogenic variant seen in Japan


ClinVar
Risk Rs779990936(A;A)
Alt Rs779990936(A;A)
Reference Rs779990936(G;G)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49399515G>A
CLNSRC
CLNACC RCV000203410.3,