rs80359822

Orientation

minus

Stabilized

minus

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

Make rs80359822(AA;GT)

Make rs80359822(GT;GT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929693

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359822
dbSNP (classic)	rs80359822
ClinGen	rs80359822
ebi	rs80359822
HLI	rs80359822
Exac	rs80359822
Gnomad	rs80359822
Varsome	rs80359822
LitVar	rs80359822
Map	rs80359822
PheGenI	rs80359822
Biobank	rs80359822
1000 genomes	rs80359822
hgdp	rs80359822
ensembl	rs80359822
geneview	rs80359822
scholar	rs80359822
google	rs80359822
pharmgkb	rs80359822
gwascentral	rs80359822
openSNP	rs80359822
23andMe	rs80359822
SNPshot	rs80359822
SNPdbe	rs80359822
MSV3d	rs80359822
GWAS Ctlg	rs80359822

Max Magnitude

0

ClinVar
Risk	rs80359822(GT;GT)
Alt	rs80359822(GT;GT)
Reference	Rs80359822(AA;AA)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1 not specified
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1, autosomal recessive not specified
Reversed	1
HGVS	NC_000001.10:g.43395364_43395365delTTinsAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017488.30, RCV000189388.2,

[PMID 10980529] Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.