rs80359816

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs80359816(G;T)

Make rs80359816(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42930765

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359816
dbSNP (classic)	rs80359816
ClinGen	rs80359816
ebi	rs80359816
HLI	rs80359816
Exac	rs80359816
Gnomad	rs80359816
Varsome	rs80359816
LitVar	rs80359816
Map	rs80359816
PheGenI	rs80359816
Biobank	rs80359816
1000 genomes	rs80359816
hgdp	rs80359816
ensembl	rs80359816
geneview	rs80359816
scholar	rs80359816
google	rs80359816
pharmgkb	rs80359816
gwascentral	rs80359816
openSNP	rs80359816
23andMe	rs80359816
SNPshot	rs80359816
SNPdbe	rs80359816
MSV3d	rs80359816
GWAS Ctlg	rs80359816

Max Magnitude

0

OMIM	138140
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80359816(A;A) rs80359816(T;T)
Alt	rs80359816(A;A) rs80359816(T;T)
Reference	Rs80359816(G;G)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 1 not provided Epilepsy
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1, autosomal recessive GLUT1 deficiency syndrome 1 not provided Epilepsy, idiopathic generalized, susceptibility to, 12
Reversed	1
HGVS	NC_000001.10:g.43396436C>A; NC_000001.10:g.43396436C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) HGMD
CLNACC	RCV000017489.27, RCV000017491.30, RCV000081432.3, RCV000178277.1,

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

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

[PMID 11603379] Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.