chr5:132335969:C>G Detail (hg38) (SLC22A4, MIR3936HG)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,671,662-131,671,662 View the variant detail on this assembly version. |
| hg38 | chr5:132,335,969-132,335,969 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003059.2:c.1413C>G | NP_003050.2:p.Gly471= |
| Ensemble | ENST00000200652.4:c.1413C>G | ENST00000200652.4:p.Gly471= |
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 |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Fibrinogen Adverse Event | [A genome-wide survey of the human genome identifies novel loci related to commo... | GAD | 20031577 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003059.3(SLC22A4):c.1413C>G (p.Gly471=) AND not provided | ClinVar | Detail |
| [A genome-wide survey of the human genome identifies novel loci related to common chronic inflammato... | 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
- rs12777 dbSNP
- Genome
- hg38
- Position
- chr5:132,335,969-132,335,969
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 12
- East Asian Heterozygous Counts (ExAC)
- 12
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0013866420152530623
- Chromosome Counts in All Race (ExAC)
- 121386
- Allele Counts in All Race (ExAC)
- 3656
- Heterozygous Counts in All Race (ExAC)
- 3498
- Homozygous Counts in All Race (ExAC)
- 79
- Allele Frequency in All Race (ExAC)
- 0.03011879458916185
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