chr1:43392819:G>A Detail (hg19) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,392,819-43,392,819
hg38 chr1:42,927,148-42,927,148 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.1372C>T NP_006507.2:p.Arg458Trp
Ensemble ENST00000426263.10:c.1372C>T ENST00000426263.10:p.Arg458Trp
ENST00000674765.1:c.1030-291C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2012-11-01 no assertion criteria provided Epilepsy, idiopathic generalized, susceptibility to, 12 germline Detail
Pathogenic 2020-12-22 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-12-18 criteria provided, single submitter GLUT1 deficiency syndrome 1, autosomal recessive germline Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Encephalopathy due to GLUT1 deficiency,dystonia 9,Childhood onset GLUT1 deficiency syndrome 2,Epilepsy, idiopathic generalized, susceptibility to, 12,Hereditary cryohydrocytosis with reduced stomatin unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Encephalopathy due to GLUT1 deficiency,dystonia 9,Childhood onset GLUT1 deficiency syndrome 2,Epilepsy, idiopathic generalized, susceptibility to, 12,Hereditary cryohydrocytosis with reduced stomatin unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Encephalopathy due to GLUT1 deficiency,dystonia 9,Childhood onset GLUT1 deficiency syndrome 2,Epilepsy, idiopathic generalized, susceptibility to, 12,Hereditary cryohydrocytosis with reduced stomatin unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Encephalopathy due to GLUT1 deficiency,dystonia 9,Childhood onset GLUT1 deficiency syndrome 2,Epilepsy, idiopathic generalized, susceptibility to, 12,Hereditary cryohydrocytosis with reduced stomatin unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Encephalopathy due to GLUT1 deficiency,dystonia 9,Childhood onset GLUT1 deficiency syndrome 2,Epilepsy, idiopathic generalized, susceptibility to, 12,Hereditary cryohydrocytosis with reduced stomatin unknown 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

DescrptionSourceLinks
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND Epilepsy, idiopathic generalized, susceptibility to,... ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND not provided ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND GLUT1 deficiency syndrome 1, autosomal recessive ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND multiple conditions ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND multiple conditions ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND multiple conditions ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND multiple conditions ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) AND multiple conditions ClinVar Detail
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) 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
rs13306758 dbSNP
Genome
hg19
Position
chr1:43,392,819-43,392,819
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser