chr1:43396437:G>A Detail (hg19) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,396,437-43,396,437
hg38 chr1:42,930,766-42,930,766 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.376C>T NP_006507.2:p.Arg126Cys
Ensemble ENST00000426263.10:c.376C>T ENST00000426263.10:p.Arg126Cys
ENST00000674765.1:c.376C>T ENST00000674765.1:p.Arg126Cys
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
Pathogenic Likely pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts Encephalopathy due to GLUT1 deficiency de novo germline Detail
Pathogenic 2011-09-06 no assertion criteria provided Childhood onset GLUT1 deficiency syndrome 2 germline Detail
Pathogenic 2011-09-06 no assertion criteria provided dystonia 9 germline Detail
Pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-26 criteria provided, single submitter GLUT1 deficiency syndrome 1, autosomal recessive germline Detail
Pathogenic Likely pathogenic 2019-01-01 criteria provided, multiple submitters, no conflicts Hereditary cryohydrocytosis with reduced stomatin de novo unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.487 GLUT1 deficiency syndrome NA CLINVAR Detail
0.240 Epilepsy, idiopathic generalized, susceptibility to, 12 NA CLINVAR Detail
0.481 DYSTONIA 18 (disorder) NA CLINVAR Detail
0.360 CHOREOATHETOSIS/SPASTICITY, EPISODIC NA CLINVAR Detail
0.487 GLUT1 deficiency syndrome In this study, the protein products of the Glut1DS-associated GLUT1 missense mut... BeFree 17052934 Detail
0.487 GLUT1 deficiency syndrome Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a ho... BeFree 21546317 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND Encephalopathy due to GLUT1 deficiency ClinVar Detail
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND Childhood onset GLUT1 deficiency syndrome 2 ClinVar Detail
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND Dystonia 9 ClinVar Detail
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND not provided ClinVar Detail
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND GLUT1 deficiency syndrome 1, autosomal recessive ClinVar Detail
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND Hereditary cryohydrocytosis with reduced stomatin ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In this study, the protein products of the Glut1DS-associated GLUT1 missense mutations, S66F, R126C,... DisGeNET Detail
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutatio... 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
rs80359818 dbSNP
Genome
hg19
Position
chr1:43,396,437-43,396,437
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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