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LOVD - Variant listings for MLH1

About this overview [Show]

Patient data (#0000154)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 11
DNA change c.918T>A
Protein p.(Asn306Lys)
MAPP/PP2 Prior P 0.916
Prior P 0.9
IARC Classification Class 5: Pathogenic
InSiGHT Classification Class 5: Pathogenic
Tumour Char LR 6.96
Segregation LR 105.29
Odds for causality 732.82
Posterior P 0.9998
Reference InSiGHT
DB-ID MLH1_00154
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.918T>A p.(Asn306Lys) 0.916 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 105.29 732.82 0.9998 InSiGHT MLH1_00154 -