chr1:43394680:G>A Detail (hg19) (SLC2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:43,394,680-43,394,680 |
| hg38 | chr1:42,929,009-42,929,009 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006516.2:c.997C>T | NP_006507.2:p.Arg333Trp |
| Ensemble | ENST00000674765.1:c.997C>T | ENST00000674765.1:p.Arg333Trp |
| ENST00000426263.10:c.997C>T | ENST00000426263.10:p.Arg333Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-04-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2015-11-04 | criteria provided, single submitter | GLUT1 deficiency syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Hereditary cryohydrocytosis with reduced stomatin,Epilepsy, idiopathic generalized, susceptibility to, 12,Childhood onset GLUT1 deficiency syndrome 2,Encephalopathy due to GLUT1 deficiency,dystonia 9 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Hereditary cryohydrocytosis with reduced stomatin,Epilepsy, idiopathic generalized, susceptibility to, 12,Childhood onset GLUT1 deficiency syndrome 2,Encephalopathy due to GLUT1 deficiency,dystonia 9 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Hereditary cryohydrocytosis with reduced stomatin,Epilepsy, idiopathic generalized, susceptibility to, 12,Childhood onset GLUT1 deficiency syndrome 2,Encephalopathy due to GLUT1 deficiency,dystonia 9 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Hereditary cryohydrocytosis with reduced stomatin,Epilepsy, idiopathic generalized, susceptibility to, 12,Childhood onset GLUT1 deficiency syndrome 2,Encephalopathy due to GLUT1 deficiency,dystonia 9 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Hereditary cryohydrocytosis with reduced stomatin,Epilepsy, idiopathic generalized, susceptibility to, 12,Childhood onset GLUT1 deficiency syndrome 2,Encephalopathy due to GLUT1 deficiency,dystonia 9 |
unknown
|
Detail |
|
Pathogenic
|
2023-10-23 | criteria provided, single submitter | GLUT1 deficiency syndrome 1, autosomal recessive |
germline
|
Detail |
|
Likely pathogenic
|
2023-04-11 | criteria provided, single submitter | Encephalopathy due to GLUT1 deficiency |
germline
|
Detail |
|
Pathogenic
|
2022-06-10 | criteria provided, single submitter | Childhood onset GLUT1 deficiency syndrome 2 |
germline
|
Detail |
|
Pathogenic
|
2016-04-18 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2023-07-07 | criteria provided, single submitter | dystonia 9 |
germline
|
Detail |
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 | |
| 0.487 | GLUT1 deficiency syndrome | The corresponding mutations in GLUT1 (R153C and R333W) are known to cause GLUT1 ... | BeFree | 22132964 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND not provided | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND GLUT1 deficiency syndrome | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND multiple conditions | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND multiple conditions | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND multiple conditions | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND multiple conditions | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND multiple conditions | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND Encephalopathy due to GLUT1 deficiency | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND Childhood onset GLUT1 deficiency syndrome 2 | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND Inborn genetic diseases | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND Dystonia 9 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The corresponding mutations in GLUT1 (R153C and R333W) are known to cause GLUT1 deficiency syndrome ... | 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
- rs80359825 dbSNP
- Genome
- hg19
- Position
- chr1:43,394,680-43,394,680
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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