chr1:42931049:C>T Detail (hg38) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,396,720-43,396,720 View the variant detail on this assembly version.
hg38 chr1:42,931,049-42,931,049

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.272G>A NP_006507.2:p.Gly91Asp
Ensemble ENST00000426263.10:c.272G>A ENST00000426263.10:p.Gly91Asp
ENST00000674765.1:c.272G>A ENST00000674765.1:p.Gly91Asp
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 2001-06-01 no assertion criteria provided Encephalopathy due to GLUT1 deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.487 GLUT1 deficiency syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp) 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
rs80359814 dbSNP
Genome
hg38
Position
chr1:42,931,049-42,931,049
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser