SLC2A1 p.Tyr424Ter (p.Y424*) Detail (hg19) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,393,282-43,393,282
hg38 chr1:42,927,611-42,927,611 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.1272T>A NP_006507.2:p.Tyr424Ter
Ensemble ENST00000426263.10:c.1272T>A ENST00000426263.10:p.Tyr424Ter
ENST00000674765.1:c.1030-754T>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic glut1 deficiency syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr1:43,393,282-43,393,282
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser