All transcript variants in gene MSH6


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 We encourage submission of relevant unpublished information to assist in the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_000179.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - - - MSH6_000911 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - - - MSH6_000911 deletion entire gene PubMed: Nilbert 2008 - - Germline - - - 0 - Michael Woods
+?/. _1_10_ c.(?_-152)_(*93_?)del likely pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - - - MSH6_000911 - - - - Germline - - - 0 - Amanda Spurdle
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH6_000911 - - - - Germline - - - 0 - Carli Tops
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - (?_-152)_(*93_?)del/Del exon 1-10 - MSH6_000911 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - Thomas Hansen
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