chr1:43395364:TT>AC Detail (hg19) (SLC2A1)

Information

Genome

Assembly Position
hg19 chr1:43,395,364-43,395,365
hg38 chr1:42,929,693-42,929,694 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006516.2:c.766_767delinsGT NP_006507.2:p.Lys256Val
Ensemble ENST00000674765.1:c.766_767delinsGT ENST00000674765.1:p.Lys256Val
ENST00000426263.10:c.766_767delinsGT ENST00000426263.10:p.Lys256Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance 2024-01-22 criteria provided, single submitter GLUT1 deficiency syndrome 1, autosomal recessive germline Detail
Uncertain significance 2017-05-05 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Encephalopathy due to GLUT1 deficiency germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Childhood onset GLUT1 deficiency syndrome 2 germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter dystonia 9 germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 12 germline Detail
Uncertain significance 2023-04-11 criteria provided, single submitter Hereditary cryohydrocytosis with reduced stomatin germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 GLUT1 deficiency syndrome 1, autosomal recessive NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND GLUT1 deficiency syndrome 1, autosomal reces... ClinVar Detail
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND not specified ClinVar Detail
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND Encephalopathy due to GLUT1 deficiency ClinVar Detail
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND Childhood onset GLUT1 deficiency syndrome 2 ClinVar Detail
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND Dystonia 9 ClinVar Detail
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND Epilepsy, idiopathic generalized, susceptibi... ClinVar Detail
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) AND Hereditary cryohydrocytosis with reduced sto... 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
rs80359822 dbSNP
Genome
hg19
Position
chr1:43,395,364-43,395,365
Variant Type
snv
Reference Allele
TT
Alternative Allele
AC
Genome browser