Full data view for 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 We encourage submission of relevant unpublished information to assist in the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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 1 c.108T>G VUS r.(=) p.(=) Unknown g.48010480T>G - - - MSH6_000009 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.108T>G VUS r.(=) p.(=) Parent #1 g.48010480T>G - T->G at 108 - MSH6_000009 - PubMed: Nicolaides 1996 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Nicolaides 1996 - ? - - - - 0 - - 1 INSiGHT group
?/. 4 c.1767del VUS r.(?) p.(Pro591Glnfs*19) Unknown g.48026889del - - - MSH6_000009 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.1767del pathogenic r.(?) p.(Pro591Glnfs*19) Unknown g.48026889del - - - MSH6_000009 Frameshift Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 - - Germline ? - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.1767del pathogenic r.(?) p.(Pro591Glnfs*19) Unknown g.48026889del - - - MSH6_000009 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
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