| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0000632) |
| Disease |
prostate cancer |
| Reference |
Tischkowitz et al., 2008, Peikuan Cong |
| Remarks |
We identified seven coding SNPs (five are novel) that
changed the amino acid sequence, resulting in R3W, E394F, Y424H, S428F, D438Y, P509S, and
P509L. |
| # Reported |
1 |
| Mut. origin |
- |
| Gender |
- |
| Occurrence |
- |
| De novo origin |
- |
| Geographic origin |
Ashkenazi Jewish |
| Ethnic origin |
- |
| Population |
- |
| Submitter |
Peikuan Cong |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Probably no pathogenicity |
| Concluded pathogenicity |
Unknown |
| Exon |
14 |
| DNA change |
c.1526C>T (View in UCSC Genome Browser, Ensembl) |
| DNA published |
P509L |
| RNA change |
- |
| Protein |
p.Pro509Leu |
| Re-site |
- |
| Frequency |
- |
| Patients |
- |
| Controls |
- |
| DB-ID |
CHEK2_00060 |
| Type |
Substitution |
| Location |
Exon |
| Template |
DNA |
| Technique |
PCR, SEQ, SSCA |
| Tissue |
blood lymphocytes |
| Variant remarks |
germline CHEK2 mutations have a
minor role in PRCA susceptibility in AJ men. |
| Reference |
- |
|
|
