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LOVD - Variant listings for MSH2

About this overview [Show]

Patient data (#0000191)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 12
DNA change c.1807G>A   (View in UCSC Genome Browser)
RNA change r.(?)
Protein p.(Asp603Asn)
MAPP/PP2 Prior P 0.740
Prior P 0.740
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR -
Segregation LR 3.547
Odds for causality 3.547
Posterior P 0.9099
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 12 c.1807G>A r.(?) p.(Asp603Asn) 0.740 0.740 Class 3: Uncertain Class 3: Uncertain - 3.547 3.547 0.9099 Thompson et al., 2014, InSiGHT - DNA SEQ