chr1:43393322:T>C Detail (hg19) (SLC2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:43,393,322-43,393,322 |
| hg38 | chr1:42,927,651-42,927,651 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006516.2:c.1232A>G | NP_006507.2:p.Asn411Ser |
| Ensemble | ENST00000674765.1:c.1030-794A>G | |
| ENST00000426263.10:c.1232A>G | ENST00000426263.10:p.Asn411Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2012-11-01 | no assertion criteria provided | Epilepsy, idiopathic generalized, susceptibility to, 12 |
germline
|
Detail |
Uncertain significance
|
2021-05-26 | criteria provided, single submitter | GLUT1 deficiency syndrome 1, autosomal recessive |
germline
|
Detail |
Pathogenic
|
2022-02-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Epilepsy, idiopathic generalized, susceptibility to, 12 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) AND Epilepsy, idiopathic generalized, susceptibility to,... | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) AND GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) AND not provided | 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
- rs398123069 dbSNP
- Genome
- hg19
- Position
- chr1:43,393,322-43,393,322
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser