Batch queries can be done using pipe "|" as a separator between search terms.
Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.
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 (#0021050) |
Disease |
- |
Reference |
- |
Remarks |
- |
Variant data |
Allele |
Unknown |
Reported pathogenicity |
Unknown |
Concluded pathogenicity |
Unknown |
Exon |
2 |
DNA change |
c.32C>A (View in UCSC Genome Browser) |
RNA change |
- |
Protein |
p.P11H |
Custom PP2.1 score |
0.295 |
MAPP score |
2.38 |
MAPP/PP2 Prior P |
0.0025 |
Reference |
Thompson et al., 2013 |
Template |
DNA |
Technique |
SEQ |
DB-ID |
PMS2_00062 |
|