All transcript variants in gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     
+?/. 3 c.289C>T likely pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+?/. 3 c.289C>T likely pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - PubMed: Sieber 2003 - - Unknown - 1/152 UK patients with 3-100 polyps - 0 - Astrid Out
+?/. 3 c.289C>T likely pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 1/658 - 0 - Stefan Aretz
+/. 3 c.289C>T pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - PubMed: Olschwang 2007 - - Unknown - - - 0 - Astrid Out
+/. 3 c.289C>T pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - MGZ, Munchen, DE - - Unknown - - - 0 - Elke Holinski-Feder
+/. 3 c.289C>T pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - PubMed: Filipe 2009 - - Germline - - - 0 - Astrid Out
+/. 3 c.289C>T pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 - PubMed: Filipe 2009 - - Germline - - - 0 - Astrid Out
+?/. 3 c.289C>T likely pathogenic r.(289c>u) p.(Arg97X) - g.45799144G>A - 247C>T (Arg83X) - MUTYH_000029 MSH6: c.3324_3325insT;p.Ile1109TyrfsX3 PubMed: Steinke 2008 - - Germline - - - 0 - Astrid Out
+?/. 3 c.289C>T likely pathogenic - p.Arg97* - g.45799144G>A - 20848659_ R69X - MUTYH_000029 in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective PubMed: Goto 2010 - - In vitro (cloned) - - - 0 - Carli Tops
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