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LOVD - Variant listings for MSH2

About this overview [Show]

Patient data (#0000208)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 13
DNA change c.2089T>C   (View in UCSC Genome Browser)
RNA change r.2089u>c
Protein p.Cys697Arg
MAPP/PP2 Prior P 0.957
Prior P 0.900
IARC Classification Class 5: Pathogenic
InSiGHT Classification Class 5: Pathogenic
Tumour Char LR 8.660
Segregation LR 12.327
Odds for causality 106.753
Posterior P 0.9990
Reference Thompson et al., 2014, InSiGHT
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 13 c.2089T>C r.2089u>c p.Cys697Arg 0.957 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 12.327 106.753 0.9990 Thompson et al., 2014, InSiGHT - DNA SEQ