chr1:43396498:C>G Detail (hg19) (SLC2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:43,396,498-43,396,498 |
| hg38 | chr1:42,930,827-42,930,827 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006516.2:c.315G>C | NP_006507.2:p.Val105= |
| Ensemble | ENST00000426263.10:c.315G>C | ENST00000426263.10:p.Val105= |
| ENST00000674765.1:c.315G>C | ENST00000674765.1:p.Val105= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2023-03-10 | criteria provided, single submitter | GLUT1 deficiency syndrome 1, autosomal recessive |
germline
|
Detail |
|
Likely benign
|
2023-12-21 | criteria provided, single submitter | SLC2A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006516.4(SLC2A1):c.315G>C (p.Val105=) AND GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar | Detail |
| NM_006516.4(SLC2A1):c.315G>C (p.Val105=) AND SLC2A1-related disorder | ClinVar | 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
- -
- Genome
- hg19
- Position
- chr1:43,396,498-43,396,498
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8514
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 119738
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.351567589236499E-6
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