chr1:42931124:G>A Detail (hg38) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,396,795-43,396,795 View the variant detail on this assembly version.
hg38 chr1:42,931,124-42,931,124

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.197C>T NP_006507.2:p.Ser66Phe
Ensemble ENST00000426263.10:c.197C>T ENST00000426263.10:p.Ser66Phe
ENST00000674765.1:c.197C>T ENST00000674765.1:p.Ser66Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.487 GLUT1 deficiency syndrome In this study, the protein products of the Glut1DS-associated GLUT1 missense mut... BeFree 17052934 Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs80359813 dbSNP
Genome
hg38
Position
chr1:42,931,124-42,931,124
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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