All transcript variants in gene MSH2


Criteria used for classification are available from here. We encourage submission of relevant unpublished information to assist in the
classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 c.94_103del pathogenic r.(?) p.(Thr32Alafs*29) g.47630424_47630433del - - - MSH2_000050 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.94_103del pathogenic r.(?) p.(Thr32Alafs*29) g.47630424_47630433del - - - MSH2_000050 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. 1 c.94_103del pathogenic r.(?) p.(Thr32Alafs*29) g.47630424_47630433del - - - MSH2_000050 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
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