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LOVD - Variant listings for MSH2

About this overview [Show]

Patient data (#0000231)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 2
DNA change c.339G>A   (View in UCSC Genome Browser)
RNA change r.339g>a
Protein p.=
MAPP/PP2 Prior P -
Prior P 0.100
IARC Classification Class 1: Not pathogenic
InSiGHT Classification Class 1: Not pathogenic
Tumour Char LR 0.004
Segregation LR 0.119
Odds for causality 4.75E-04
Posterior P 0.0001
Reference Thompson et al., 2013
Variant remarks -
Template DNA
Technique SEQ

1 entry in MSH2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA 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
Variant remarks Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
-/- Unknown 2 c.339G>A r.339g>a p.= - 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.004 0.119 4.75E-04 0.0001 Thompson et al., 2013 - DNA SEQ