Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338737(A;A)
Make rs80338737(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position45369364
GeneGATM
is asnp
is mentioned by
dbSNPrs80338737
ebirs80338737
HLIrs80338737
Exacrs80338737
Varsomers80338737
Maprs80338737
PheGenIrs80338737
hapmaprs80338737
1000 genomesrs80338737
hgdprs80338737
ensemblrs80338737
gopubmedrs80338737
geneviewrs80338737
scholarrs80338737
googlers80338737
pharmgkbrs80338737
gwascentralrs80338737
openSNPrs80338737
23andMers80338737
23andMe allrs80338737
SNP Nexus

SNPshotrs80338737
SNPdbers80338737
MSV3drs80338737
GWAS Ctlgrs80338737
Max Magnitude0
OMIM602360
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338737(A,T;A,T)
Alt rs80338737(A,T;A,T)
Reference rs80338737(G;G)
Significance Pathogenic
Disease Arginine:glycine amidinotransferase deficiency
Variation info
Gene GATM
CLNDBN Arginine:glycine amidinotransferase deficiency
Reversed 1
HGVS NC_000015.9:g.45661562C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007725.3,


[PMID 11555793OA-icon.png] Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.


[PMID 12468279] Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.