rs386833683

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AAGATTTGGCCCTCA;AAGATTTGGCCCTCA)	0	common in clinvar

Make rs386833683(-;-)

Make rs386833683(-;AAGATTTGGCCCTCA)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49420216

Gene

AMT

is a	snp
is	mentioned by
dbSNP	rs386833683
dbSNP (classic)	rs386833683
ClinGen	rs386833683
ebi	rs386833683
HLI	rs386833683
Exac	rs386833683
Gnomad	rs386833683
Varsome	rs386833683
LitVar	rs386833683
Map	rs386833683
PheGenI	rs386833683
Biobank	rs386833683
1000 genomes	rs386833683
hgdp	rs386833683
ensembl	rs386833683
geneview	rs386833683
scholar	rs386833683
google	rs386833683
pharmgkb	rs386833683
gwascentral	rs386833683
openSNP	rs386833683
23andMe	rs386833683
SNPshot	rs386833683
SNPdbe	rs386833683
MSV3d	rs386833683
GWAS Ctlg	rs386833683

Max Magnitude

0

ClinVar
Risk	rs386833683(-;-)
Alt	rs386833683(-;-)
Reference	Rs386833683(AAGATTTGGCCCTCA;AAGATTTGGCCCTCA)
Significance	Probable-Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	AMT
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000003.11:g.49457649_49457663delTGAGGGCCAAATCTT
CLNSRC	ClinVar
CLNACC	RCV000049644.1,

[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.