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LOVD - Variant listings for MLH1

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Patient data (#0000128)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 1
DNA change c.65G>C   (View in UCSC Genome Browser)
Protein p.(Gly22Ala)
MAPP/PP2 Prior P 0.888
Prior P 0.888
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR 0.1
Segregation LR -
Odds for causality 0.1
Posterior P 0.4419
Reference Thompson et al., 2014, InSiGHT
DB-ID MLH1_00128
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 1 c.65G>C p.(Gly22Ala) 0.888 0.888 Class 3: Uncertain Class 3: Uncertain 0.1 - 0.1 0.4419 Thompson et al., 2014, InSiGHT MLH1_00128 -