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LOVD - Variant listings for MSH2

About this overview [Show]

Patient data (#0000178)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 8i
DNA change c.1387-9T>A
RNA change r.1386_1387ins1387-7_1387-1
Protein p.Val463Phefs*7
MAPP/PP2 Prior P -
Prior P 0.260
IARC Classification Class 5: Pathogenic
InSiGHT Classification Class 5: Pathogenic
Tumour Char LR 75.000
Segregation LR 25.11
Odds for causality 1883.4
Posterior P 0.9984
Reference 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 8i c.1387-9T>A r.1386_1387ins1387-7_1387-1 p.Val463Phefs*7 - 0.260 Class 5: Pathogenic Class 5: Pathogenic 75.000 25.11 1883.4 0.9984 InSiGHT - DNA SEQ