chr1:43395555:C>T Detail (hg19) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,395,555-43,395,555
hg38 chr1:42,929,884-42,929,884 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.668G>A NP_006507.2:p.Arg223Gln
Ensemble ENST00000674765.1:c.668G>A ENST00000674765.1:p.Arg223Gln
ENST00000426263.10:c.668G>A ENST00000426263.10:p.Arg223Gln
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 Uncertain significance
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 COSM6451161 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-09-15 criteria provided, single submitter GLUT1 deficiency syndrome 1, autosomal recessive germline Detail
Uncertain significance 2023-04-11 criteria provided, multiple submitters, no conflicts dystonia 9 germline Detail
Uncertain significance 2019-12-13 criteria provided, single submitter not provided germline Detail
Uncertain significance 2018-03-14 criteria provided, single submitter Inborn genetic diseases germline Detail
Uncertain significance 2023-04-11 criteria provided, multiple submitters, no conflicts Encephalopathy due to GLUT1 deficiency germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Childhood onset GLUT1 deficiency syndrome 2 germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 12 germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Hereditary cryohydrocytosis with reduced stomatin 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.668G>A (p.Arg223Gln) AND GLUT1 deficiency syndrome 1, autosomal recessive ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Dystonia 9 ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND not provided ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Inborn genetic diseases ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Encephalopathy due to GLUT1 deficiency ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Childhood onset GLUT1 deficiency syndrome 2 ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Epilepsy, idiopathic generalized, susceptibility to, ... ClinVar Detail
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Hereditary cryohydrocytosis with reduced stomatin 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
rs397514564 dbSNP
Genome
hg19
Position
chr1:43,395,555-43,395,555
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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)
121376
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6477722119694175E-5
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