All transcript variants in 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 2 c.402dup r.(?) p.(Asp135*) - VUS g.48018207dup g.47791068dup - - MSH6_000048 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/. 2 c.402dup r.(?) p.(Asp135*) - likely pathogenic g.48018207dup g.47791068dup 396insT; p.F133fs - MSH6_000048 - - - - Germline - - - 0 - Barbara Luisa Soares
+/. - c.402dup r.(?) p.(Asp135Ter) - pathogenic g.48018207dup g.47791068dup MSH6(NM_000179.2):c.402dupT (p.D135*) - MSH6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
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