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rs80338734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338734(C;C)
Make rs80338734(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1401418
GeneGAMT
is asnp
is mentioned by
dbSNPrs80338734
ebirs80338734
HLIrs80338734
Exacrs80338734
Varsomers80338734
Maprs80338734
PheGenIrs80338734
hapmaprs80338734
1000 genomesrs80338734
hgdprs80338734
ensemblrs80338734
gopubmedrs80338734
geneviewrs80338734
scholarrs80338734
googlers80338734
pharmgkbrs80338734
gwascentralrs80338734
openSNPrs80338734
23andMers80338734
23andMe allrs80338734
SNP Nexus

SNPshotrs80338734
SNPdbers80338734
MSV3drs80338734
GWAS Ctlgrs80338734
Max Magnitude0
OMIM601240
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338734(C;C)
Alt rs80338734(C;C)
Reference rs80338734(G;G)
Significance Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 1
HGVS NC_000019.9:g.1401417C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008801.4,


[PMID 15651030] Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.