Full data view for gene MSH6


MSH6 variants classified by the InSiGHT consortium: criteria used for classification are available 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 3 c.622A>G r.(?) p.(Met208Val) Unknown - VUS g.48023197A>G g.47796058A>G - - MSH6_000080 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.622A>G r.(?) p.(Met208Val) Unknown - VUS g.48023197A>G g.47796058A>G - - MSH6_000080 Carrier frequency in Iceland (%): 0.5; Odds ratio for CRC (95%CI): 1.39 (0.87-2.23) PubMed: Haraldsdottir 2018 - - Germline - 0.5 - 0 - DNA ? - WGS (Illumina) 8,453 Icelanders, irrespective cancer status, mean depth >, 10X, all patients with dMMR CRC diagnosed 2000-2009 germline DNA typed for WGS MMR, when one of three founder mutations was absent WGS performed, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
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