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LOVD - Variant listings for MSH2

About this overview [Show]

Patient data (#0000174)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 7
DNA change c.1275A>G   (View in UCSC Genome Browser)
RNA change r.[1229_1276del, =]
Protein p.[=, Ile411_Gly426del]
MAPP/PP2 Prior P -
Prior P 0.100
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR -
Segregation LR 0.926
Odds for causality 0.926
Posterior P 0.0933
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 7 c.1275A>G r.[1229_1276del, =] p.[=, Ile411_Gly426del] - 0.100 Class 3: Uncertain Class 3: Uncertain - 0.926 0.926 0.0933 Thompson et al., 2014, InSiGHT - DNA SEQ