chr17:64356203:C>T Detail (hg38) (PECAM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | |
| hg38 | chr17:64,356,203-64,356,203 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000563924.6:c.1688G>A | ENST00000563924.6:p.Ser563Asn |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
|
no assertion criteria provided | Three Vessel Coronary Disease |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | atherosclerosis | The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of athero... | BeFree | 14575520 | Detail |
| 0.002 | arteriosclerosis | The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of athero... | BeFree | 14575520 | Detail |
| 0.006 | coronary artery disease | We have shown that there were a significant differences for the 53 G/A and V125L... | BeFree | 20370486 | Detail |
| 0.008 | myocardial infarction | Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gen... | BeFree | 11795274 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000442.5(PECAM1):c.1688G>A (p.Ser563Asn) AND Three Vessel Coronary Disease | ClinVar | Detail |
| The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not ne... | DisGeNET | Detail |
| The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not ne... | DisGeNET | Detail |
| We have shown that there were a significant differences for the 53 G/A and V125L and N563S polymorph... | DisGeNET | Detail |
| Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly... | 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
- rs12953 dbSNP
- Genome
- hg38
- Position
- chr17:64,356,203-64,356,203
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser