Full data view for gene MUTYH


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

18 entries on 1 page. Showing entries 1 - 18.
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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)     

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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1171C>T r.(?) p.(Gln391Ter) - Unknown - pathogenic g.45797348G>A g.45331676G>A MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*) - MUTYH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Unknown - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X) - MUTYH_000072 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Parent #1 - likely pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X) - MUTYH_000072 - PubMed: Nielsen 2005, PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Turkey - - - - - 1 Carli Tops
+?/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Parent #2 - likely pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X) - MUTYH_000072 - PubMed: Nielsen 2005, PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Turkey - - - - - 1 Carli Tops
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Unknown - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X) - MUTYH_000072 - PubMed: Olschwang 2007 - - Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France - - Yugoslavia - - - - - 2 Astrid Out
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Unknown - pathogenic g.45797348G>A g.45331676G>A 1129C>T;1131C>T (Gln377X) - MUTYH_000072 - PubMed: Gómez-Fernández 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Gómez-Fernández 2009 Family: Two siblings: AFAP+CRC (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Galician - - - - 1 Astrid Out
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Unknown - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X); Q377X - MUTYH_000072 O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 17219385_3 PubMed: Croitoru 2007, PubMed: O Shea 2008 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative F - (Canada);United Kingdom (Great Britain) UK - - - - 1 Astrid Out
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Parent #1 - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X); Q377X - MUTYH_000072 - PubMed: Aretz 2006 - - Germline - 3/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Parent #2 - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X); Q377X - MUTYH_000072 - PubMed: Aretz 2006 - - Germline - 3/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Unknown - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X) - MUTYH_000072 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 3/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1171C>T r.(1171c>u) p.(Gln391X) - Unknown - pathogenic g.45797348G>A g.45331676G>A 1129C>T (Gln377X) - MUTYH_000072 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1171C>T r.(?) p.Gln391* - Unknown - NA g.45797348G>A g.45331676G>A 18534194_glycosylase_Q377X - MUTYH_000072 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1171C>T r.(?) p.Gln391* - Unknown - NA g.45797348G>A g.45331676G>A 18534194_binding_Q377X - MUTYH_000072 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1171C>T r.(?) p.Gln391* - Unknown - NA g.45797348G>A g.45331676G>A 18534194_protein_Q377X - MUTYH_000072 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.1171C>T r.(?) p.(Gln391Ter) - Unknown - pathogenic g.45797348G>A - MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*) - MUTYH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1171C>T r.(?) p.(Gln391*) - Parent #1 - NA g.45797348G>A - chr1_45797348_G_A - MUTYH_000072 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 - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.1171C>T r.(?) p.(Gln391*) - Parent #1 - NA g.45797348G>A - chr1_45797348_G_A - MUTYH_000072 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 - 2/53461 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 - 2 BRIDGES consortium
+/. - c.1171C>T r.(?) p.(Gln391Ter) - Unknown - pathogenic g.45797348G>A - MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*) - MUTYH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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