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LOVD - Variant listings for MLH1

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Patient data (#0000044)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.187G>A   (View in UCSC Genome Browser)
Protein p.(Asp63Asn)
MAPP/PP2 Prior P 0.74
Prior P 0.74
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR -
Segregation LR 1.935
Odds for causality 1.935
Posterior P 0.8463
Reference Thompson et al., 2014, InSiGHT
DB-ID MLH1_00044
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 2 c.187G>A p.(Asp63Asn) 0.74 0.74 Class 3: Uncertain Class 3: Uncertain - 1.935 1.935 0.8463 Thompson et al., 2014, InSiGHT MLH1_00044 -