chr1:42929637:C>T Detail (hg38) (SLC2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:43,395,308-43,395,308 View the variant detail on this assembly version. |
| hg38 | chr1:42,929,637-42,929,637 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006516.2:c.823G>A | NP_006507.2:p.Ala275Thr |
| Ensemble | ENST00000426263.10:c.823G>A | ENST00000426263.10:p.Ala275Thr |
| ENST00000674765.1:c.823G>A | ENST00000674765.1:p.Ala275Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2008-06-01 | no assertion criteria provided | Childhood onset GLUT1 deficiency syndrome 2 |
germline
|
Detail |
|
Pathogenic
|
2023-04-11 | criteria provided, multiple submitters, no conflicts | Encephalopathy due to GLUT1 deficiency |
germline
|
Detail |
|
Pathogenic
|
2018-05-07 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-08-09 | criteria provided, single submitter | GLUT1 deficiency syndrome 1, autosomal recessive |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.487 | GLUT1 deficiency syndrome | NA | CLINVAR | Detail | |
| 0.481 | DYSTONIA 18 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) AND Childhood onset GLUT1 deficiency syndrome 2 | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) AND Encephalopathy due to GLUT1 deficiency | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) AND not provided | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) AND GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar | Detail |
| 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
- rs121909740 dbSNP
- Genome
- hg38
- Position
- chr1:42,929,637-42,929,637
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser