chr1:43395437:G>A Detail (hg19) (SLC2A1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr1:43,395,437-43,395,437
hg38	chr1:42,929,766-42,929,766 View the variant detail on this assembly version.

HGVS

SLC2A1

Type	Transcript	Protein
RefSeq	NM_006516.2:c.694C>T	NP_006507.2:p.Arg232Cys
Ensemble	ENST00000674765.1:c.694C>T	ENST00000674765.1:p.Arg232Cys
	ENST00000426263.10:c.694C>T	ENST00000426263.10:p.Arg232Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

SLC2A1

Type	Database	ID	Link
Gene	MIM	138140	OMIM
	HGNC	11005	HGNC
	Ensembl	ENSG00000117394	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM909703	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2012-02-21	no assertion criteria provided	Epilepsy, idiopathic generalized, susceptibility to, 12	germline	Detail
Pathogenic Likely pathogenic	2021-11-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-04-15	criteria provided, single submitter	GLUT1 deficiency syndrome 1, autosomal recessive	germline	Detail
Likely pathogenic	2023-04-11	criteria provided, single submitter	Encephalopathy due to GLUT1 deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Epilepsy, idiopathic generalized, susceptibility to, 12	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) AND Epilepsy, idiopathic generalized, susceptibility to, ...	ClinVar	Detail
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) AND not provided	ClinVar	Detail
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) AND GLUT1 deficiency syndrome 1, autosomal recessive	ClinVar	Detail
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) AND Encephalopathy due to GLUT1 deficiency	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs387907313 dbSNP
Genome: hg19
Position: chr1:43,395,437-43,395,437
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121378
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.2387253044209E-6

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