
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 (#0000130) |
Patient ID |
|
Disease |
Ovarian cancer |
Reference |
Horak et al., 2005 |
Template |
DNA |
Technique |
PCR |
Frequency |
- |
Remarks |
97 ovarian cancer samples were investigated along with controls. In all three polymorphisms no significant difference could be found between the normal and disease samples. |
Variant data |
Allele |
Unknown |
Reported pathogenicity |
Unknown |
Concluded pathogenicity |
Unknown |
External ID |
dbSNP |
Exon |
4 |
DNA change |
c.626G>C (View in UCSC Genome Browser, Ensembl) |
Type |
Substitution |
Mutation effect |
Missense |
Protein |
p.(Arg209Thr) |
PolyPhen 2 |
Benign |
Frequency |
- |
DB-ID |
TNFRSF10A_00003 |
|
|