chr9:4576018:T>C Detail (hg38) (SLC1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:4,576,018-4,576,018 View the variant detail on this assembly version. |
| hg38 | chr9:4,576,018-4,576,018 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004170.5:c.893T>C | NP_004161.4:p.Ile298Thr |
| Ensemble | ENST00000262352.8:c.893T>C | ENST00000262352.8:p.Ile298Thr |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | dicarboxylic aminoaciduria |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr) AND Dicarboxylic aminoaciduria | 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
- -
- dbSNP
- rs376139002 dbSNP
- Genome
- hg38
- Position
- chr9:4,576,018-4,576,018
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121344
- Allele Counts in All Race (ExAC)
- 14
- Heterozygous Counts in All Race (ExAC)
- 12
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 1.1537447257383966E-4
Genome browser