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 MLH1_priors

About this overview [Show]

Patient data (#0000812)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 1
DNA change c.70G>C   (View in UCSC Genome Browser)
RNA change -
Protein p.V24L
MAPP score 15.27
Custom PP2.1 score 0.792
MAPP/PP2 Prior P 0.5894
Reference Thompson et al., 2013
Template DNA
Technique SEQ
DB-ID MLH1_00500

1 entry in MLH1_priors

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
MAPP score Descending
Ascending
Custom PP2.1 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.70G>C - p.V24L 15.27 0.792 0.5894 Thompson et al., 2013 DNA SEQ MLH1_00500