chr7:120450566:A>T Detail (hg19) (TSPAN12)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:120,450,566-120,450,566 |
| hg38 | chr7:120,810,512-120,810,512 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_012338.3:c.419T>A | NP_036470.1:p.Leu140Ter |
| Ensemble | ENST00000222747.8:c.419T>A | ENST00000222747.8:p.Leu140Ter |
| ENST00000415871.5:c.419T>A | ENST00000415871.5:p.Leu140Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
||||
|
Pathogenic
|
autosomal-dominant familial exudative vitreoretinopathy |
unknown
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2011-06-01 | 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.419T>A (p.Leu140Ter) 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
- rs267607153 dbSNP
- Genome
- hg19
- Position
- chr7:120,450,566-120,450,566
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser