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LOVD - Variant listings for MLH1

About this overview [Show]

Patient data (#0000002)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Probably no pathogenicity
Exon 5'UTR
DNA change c.-269C>G   (View in UCSC Genome Browser)
Protein p.=
MAPP/PP2 Prior P -
Prior P 0.26
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 2: Likely not pathogenic
Tumour Char LR -
Segregation LR 0.321
Odds for causality 0.321
Posterior P 0.1012
Reference Thompson et al., 2014, InSiGHT
DB-ID MLH1_00002
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 5'UTR c.-269C>G p.= - 0.26 Class 3: Uncertain Class 2: Likely not pathogenic - 0.321 0.321 0.1012 Thompson et al., 2014, InSiGHT MLH1_00002 -