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LOVD - Variant listings for PMS2

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Patient data (#0000305)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.52A>G   (View in UCSC Genome Browser)
RNA change r.(?)
Protein p.(Ile18Val)
MAPP/PP2 Prior P 0.557
Prior P 0.557
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR -
Segregation LR 0.081
Odds for causality 0.081
Posterior P 0.0920
Reference Thompson et al., 2014, InSiGHT
Variant remarks -
Template DNA
Technique SEQ
DB-ID PMS2_00001

1 entry in PMS2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
MAPP/PP2 Prior P Descending
Ascending
Prior P Descending
Ascending
IARC Classification Descending
Ascending
InSiGHT Classification Descending
Ascending
Tumour Char LR Descending
Ascending
Segregation LR Descending
Ascending
Odds for causality Descending
Ascending
Posterior P Descending
Ascending
Reference Descending
Ascending
Variant remarks Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown 2 c.52A>G r.(?) p.(Ile18Val) 0.557 0.557 Class 3: Uncertain Class 3: Uncertain - 0.081 0.081 0.0920 Thompson et al., 2014, InSiGHT - DNA SEQ PMS2_00001