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LOVD - Variant listings for MLH1

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Patient data (#0000116)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 6
DNA change c.498A>C   (View in UCSC Genome Browser)
Protein p.(Leu166Phe)
MAPP/PP2 Prior P 0.019
Prior P 0.1
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR 6.96
Segregation LR -
Odds for causality 6.96
Posterior P 0.4361
Reference Thompson et al., 2014, InSiGHT
DB-ID MLH1_00116
Variant remarks -

1 entry in MLH1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA 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
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
?/? Unknown 6 c.498A>C p.(Leu166Phe) 0.019 0.1 Class 3: Uncertain Class 3: Uncertain 6.96 - 6.96 0.4361 Thompson et al., 2014, InSiGHT MLH1_00116 -