chr1:43394969:G>A Detail (hg19) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,394,969-43,394,969
hg38 chr1:42,929,298-42,929,298 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.884C>T NP_006507.2:p.Thr295Met
Ensemble ENST00000426263.10:c.884C>T ENST00000426263.10:p.Thr295Met
ENST00000674765.1:c.884C>T ENST00000674765.1:p.Thr295Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2023-03-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts Encephalopathy due to GLUT1 deficiency germline Detail
Pathogenic 2023-03-08 criteria provided, single submitter GLUT1 deficiency syndrome 1, autosomal recessive germline Detail
Pathogenic 2021-05-06 criteria provided, single submitter GLUT1 deficiency syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.487 GLUT1 deficiency syndrome NA CLINVAR Detail
0.487 GLUT1 deficiency syndrome In this study, the protein products of the Glut1DS-associated GLUT1 missense mut... BeFree 17052934 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) AND not provided ClinVar Detail
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) AND Encephalopathy due to GLUT1 deficiency ClinVar Detail
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) AND GLUT1 deficiency syndrome 1, autosomal recessive ClinVar Detail
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) AND GLUT1 deficiency syndrome ClinVar Detail
NA DisGeNET Detail
In this study, the protein products of the Glut1DS-associated GLUT1 missense mutations, S66F, R126C,... 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
rs80359823 dbSNP
Genome
hg19
Position
chr1:43,394,969-43,394,969
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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