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LOVD - Variant listings for MLH1

About this overview [Show]

Patient data (#0000035)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 16
DNA change c.1799A>G   (View in UCSC Genome Browser)
Protein p.(Glu600Gly)
MAPP/PP2 Prior P 0.008
Prior P 0.1
IARC Classification Class 1: Not pathogenic
InSiGHT Classification Class 1: Not pathogenic
Tumour Char LR -
Segregation LR 0.004
Odds for causality 0.004
Posterior P 0.0004
Reference Thompson et al., 2014, InSiGHT
DB-ID MLH1_00035
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 16 c.1799A>G p.(Glu600Gly) 0.008 0.1 Class 1: Not pathogenic Class 1: Not pathogenic - 0.004 0.004 0.0004 Thompson et al., 2014, InSiGHT MLH1_00035 -