chr1:42929027:CA> Detail (hg38) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,394,698-43,394,699 
hg38 chr1:42,929,027-42,929,028

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.978_979delTG NP_006507.2:p.Val327GlyfsTer53
Ensemble ENST00000426263.10:c.978_979delTG ENST00000426263.10:p.Val327GlyfsTer53
ENST00000674765.1:c.978_979delTG ENST00000674765.1:p.Val327GlyfsTer58
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 NA CLINVAR Detail
0.240 Epilepsy, idiopathic generalized, susceptibility to, 12 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET 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
rs80359838 dbSNP
Genome
hg38
Position
chr1:42,929,027-42,929,028
Variant Type
snv
Reference Allele
CA
Alternative Allele
-
Genome browser