Full data view for gene MUTYH


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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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Consanguinity     

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VIP     

Data_av     

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Panel size     

Owner     
+/. 14 c.1438G>T r.(?) p.Glu480* - Unknown - pathogenic g.45796892C>A g.45331220C>A Glu466*; E466* - MUTYH_000088 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #1 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X) - MUTYH_000088 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Unknown - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X) - MUTYH_000088 - PubMed: Dolwani 2007 - - Unknown - 1/120 CRC cases (1/100 controls) - - - DNA PCRdig, SEQ - - CRC - PubMed: Dolwani 2007 - - - India Indian subcontinent - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Unknown - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X) - MUTYH_000088 - PubMed: Dolwani 2007 - - Unknown - - - - - DNA PCRdig, SEQ - - ? - PubMed: Dolwani 2007 1/100 controls (1/120 CRC cases) - - India Indian subcontinent - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #1 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X) - MUTYH_000088 - PubMed: Jones 2002; OMIM:var0005 - - Unknown - - - - - DNA SEQ - - ? PMID12393807_1 PubMed: Jones 2002, OMIM:var0005 - - - India - - - - - 3 Carli Tops
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Unknown - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X) - MUTYH_000088 - PubMed: Sampson 2003 - - Unknown - - - - - DNA SEQ - - ? PMID12853198_5 PubMed: Sampson 2003 - - - India - - - - - 1 Carli Tops
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #1 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X) - MUTYH_000088 PolyPhen: begign; ESEfinder 3.0 o.B., in ATPase domain MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #1 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X); E466X - MUTYH_000088 - PubMed: Ajith Kumar 2008 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Ajith Kumar 2008 Monozygotic twin brother: caecal adenocarcinoma (57) + multiple adenomas + small bowel adenocarcinoma (metastasis?); cousin of father bowel cancer (61) M - India Gujarati (near Pakistan) - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #2 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X); E466X - MUTYH_000088 - PubMed: Ajith Kumar 2008 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Ajith Kumar 2008 Monozygotic twin brother: caecal adenocarcinoma (57) + multiple adenomas + small bowel adenocarcinoma (metastasis?); cousin of father bowel cancer (61) M - India Gujarati (near Pakistan) - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #1 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X); E466X - MUTYH_000088 - Medical Genetics, SGUL, London, UK - - Germline - - - - - DNA SEQ - - CRC - Medical Genetics, SGUL, London, UK 50 tubular adenomas; brother CRC 58y, deceased M - United Kingdom (Great Britain) India - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(1438g>u) p.(Glu480X) - Parent #2 - pathogenic g.45796892C>A g.45331220C>A 1396G>T (Glu466X); E466X - MUTYH_000088 - Medical Genetics, SGUL, London, UK - - Germline - - - - - DNA SEQ - - CRC - Medical Genetics, SGUL, London, UK 50 tubular adenomas; brother CRC 58y, deceased M - United Kingdom (Great Britain) India - - - - 1 Astrid Out
+/. 14 c.1438G>T r.(?) p.Glu480* - Unknown - NA g.45796892C>A g.45331220C>A 18534194_glycosylase_Q466X - MUTYH_000088 In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1438G>T r.(?) p.Glu480* - Unknown - NA g.45796892C>A g.45331220C>A 18534194_binding_Q466X - MUTYH_000088 DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1438G>T r.(?) p.Glu480* - Unknown - NA g.45796892C>A g.45331220C>A 18534194_protein_Q466X - MUTYH_000088 Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1438G>T r.(?) p.(Glu480*) - Parent #1 - NA g.45796892C>A - chr1_45796892_C_A - MUTYH_000088 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
+/. - c.1438G>T r.(?) p.(Glu480Ter) - Unknown - pathogenic g.45796892C>A g.45331220C>A - - MUTYH_000088 - Sheth, unpublished - - Germline - - - - - DNA SEQ - panel MLH1, MSH2, MSH6, PMS2, EPCAM cancer, colon - Sheth, unpublished - M - India - - - - - 1 Harsh Sheth
+/. - c.1438G>T r.(?) p.(Glu480Ter) - Unknown - pathogenic g.45796892C>A g.45331220C>A - - MUTYH_000088 - Sheth, unpublished - - Germline - - - - - DNA SEQ - panel MLH1, MSH2, MSH6, PMS2, EPCAM cancer, colon - Sheth, unpublished - M - India - - - - - 1 Harsh Sheth
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