chr17:7689237:A>T Detail (hg38) (WRAP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,592,555-7,592,555 View the variant detail on this assembly version. |
| hg38 | chr17:7,689,237-7,689,237 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001143992.1:c.445A>T | NP_001137464.1:p.Ser149Cys |
| NM_018081.2:c.445A>T | NP_060551.2:p.Ser149Cys | |
| NM_001143990.1:c.445A>T | NP_001137462.1:p.Ser149Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | squamous cell carcinoma | Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of... | BeFree | 17294448 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (... | 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
- rs369563538 dbSNP
- Genome
- hg38
- Position
- chr17:7,689,237-7,689,237
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser