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 (#0005128)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 18
DNA change c.2090T>C   (View in UCSC Genome Browser)
RNA change -
Protein p.L697P
MAPP score 4.98
Custom PP2.1 score 0.001
MAPP/PP2 Prior P 0.0039
Reference Thompson et al., 2013
Template DNA
Technique SEQ
DB-ID MLH1_04594

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 18 c.2090T>C - p.L697P 4.98 0.001 0.0039 Thompson et al., 2013 DNA SEQ MLH1_04594