chr7:120810518:T>C Detail (hg38) (TSPAN12)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:120,450,572-120,450,572 View the variant detail on this assembly version. |
| hg38 | chr7:120,810,518-120,810,518 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_012338.3:c.413A>G | NP_036470.1:p.Tyr138Cys |
| Ensemble | ENST00000222747.8:c.413A>G | ENST00000222747.8:p.Tyr138Cys |
| ENST00000415871.5:c.413A>G | ENST00000415871.5:p.Tyr138Cys |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2012-05-14 | no assertion criteria provided | exudative vitreoretinopathy 5 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | exudative vitreoretinopathy 5 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) AND Exudative vitreoretinopathy 5 | 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
- rs587777283 dbSNP
- Genome
- hg38
- Position
- chr7:120,810,518-120,810,518
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8644
- 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)
- 121322
- 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)
- 8.242528148233626E-6
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