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.
LOVD - Variant listings for MSH6_priors

About this overview [Show]

Patient data (#0012076)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 1
DNA change c.22T>A   (View in UCSC Genome Browser)
RNA change -
Protein p.Y8N
Custom PP2.1 score 0.027
MAPP score 13.43
MAPP/PP2 Prior P 0.0396
Reference Thompson et al., 2013
Template DNA
Technique SEQ
DB-ID MSH6_00036

1 entry in MSH6_priors

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Custom PP2.1 score Descending
Ascending
MAPP score Descending
Ascending
MAPP/PP2 Prior P Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown 1 c.22T>A - p.Y8N 0.027 13.43 0.0396 Thompson et al., 2013 DNA SEQ MSH6_00036