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rs80338736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(CCC;CCC) 0 common in clinvar
Make rs80338736(-;-)
Make rs80338736(-;CCGGGACTGGGCC)
Make rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC)
ReferenceGRCh38 38.1/141
Chromosome19
Position1399810
GeneGAMT
is asnp
is mentioned by
dbSNPrs80338736
ebirs80338736
HLIrs80338736
Exacrs80338736
Varsomers80338736
Maprs80338736
PheGenIrs80338736
hapmaprs80338736
1000 genomesrs80338736
hgdprs80338736
ensemblrs80338736
gopubmedrs80338736
geneviewrs80338736
scholarrs80338736
googlers80338736
pharmgkbrs80338736
gwascentralrs80338736
openSNPrs80338736
23andMers80338736
23andMe allrs80338736
SNP Nexus

SNPshotrs80338736
SNPdbers80338736
MSV3drs80338736
GWAS Ctlgrs80338736
Max Magnitude0
OMIM601240
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338736(GGGACTGGGCCCC;GGGACTGGGCCCC)
Alt rs80338736(GGGACTGGGCCCC;GGGACTGGGCCCC)
Reference rs80338736(CCC;CCC)
Significance Pathogenic
Disease Deficiency of guanidinoacetate methyltransferase
Variation info
Gene GAMT
CLNDBN Deficiency of guanidinoacetate methyltransferase
Reversed 1
HGVS NC_000019.9:g.1399810_1399822dupGGCCCAGTCCCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008800.4,


[PMID 8651275OA-icon.png] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.