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LOVD - Variant listings for MLH1

About this overview [Show]

Patient data (#0000153)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 11
DNA change c.911A>T
Protein p.Asp304Val
MAPP/PP2 Prior P 0.891
Prior P 0.891
IARC Classification Class 5: Pathogenic
InSiGHT Classification Class 5: Pathogenic
Tumour Char LR 8.66
Segregation LR 6.146
Odds for causality 6.146
Posterior P 0.99771
Reference InSiGHT
DB-ID MLH1_00153
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 11 c.911A>T p.Asp304Val 0.891 0.891 Class 5: Pathogenic Class 5: Pathogenic 8.66 6.146 6.146 0.99771 InSiGHT MLH1_00153 -