rs80338736

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(CCC;CCC)	0	common in clinvar
(D;D)	0	common genotype

Make rs80338736(-;CCGGGACTGGGCC)

Make rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1399810

Gene

GAMT

is a	snp
is	mentioned by
dbSNP	rs80338736
dbSNP (classic)	rs80338736
ClinGen	rs80338736
ebi	rs80338736
HLI	rs80338736
Exac	rs80338736
Gnomad	rs80338736
Varsome	rs80338736
LitVar	rs80338736
Map	rs80338736
PheGenI	rs80338736
Biobank	rs80338736
1000 genomes	rs80338736
hgdp	rs80338736
ensembl	rs80338736
geneview	rs80338736
scholar	rs80338736
google	rs80338736
pharmgkb	rs80338736
gwascentral	rs80338736
openSNP	rs80338736
23andMe	rs80338736
SNPshot	rs80338736
SNPdbe	rs80338736
MSV3d	rs80338736
GWAS Ctlg	rs80338736

Max Magnitude

0

OMIM	601240
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338736(GGGACTGGGCCCC;GGGACTGGGCCCC) rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC)
Alt	rs80338736(GGGACTGGGCCCC;GGGACTGGGCCCC) rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC)
Reference	Rs80338736(-;-)
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 8651275] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.