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rs727504022

From SNPedia

Orientationminus
Stabilizedminus
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 38.2/144
Chromosome6
Position49459187
GeneMUT
is asnp
is mentioned by
dbSNPrs727504022
dbSNP (old)rs727504022
ClinGenrs727504022
ebirs727504022
HLIrs727504022
Exacrs727504022
Gnomadrs727504022
Varsomers727504022
Maprs727504022
PheGenIrs727504022
Biobankrs727504022
1000 genomesrs727504022
hgdprs727504022
ensemblrs727504022
gopubmedrs727504022
geneviewrs727504022
scholarrs727504022
googlers727504022
pharmgkbrs727504022
gwascentralrs727504022
openSNPrs727504022
23andMers727504022
23andMe allrs727504022
SNP Nexus

SNPshotrs727504022
SNPdbers727504022
MSV3drs727504022
GWAS Ctlgrs727504022
Max Magnitude8.8

aka c.280G>A, p.Gly94Arg or G94R; mutation seen in Hispanics


ClinVar
Risk Rs727504022(A;A)
Alt Rs727504022(A;A)
Reference Rs727504022(G;G)
Significance Pathogenic
Disease not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49426900C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000153522.2, RCV000175567.1,