Full data view for gene MUTYH


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

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3 c.312C>A r.(?) p.Tyr104* - Unknown - pathogenic g.45799121G>T g.45333449G>T Tyr90*; Y90* - MUTYH_000032 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - PubMed: Dolwani 2007 - - Unknown - - - - - DNA PCRdig, SEQ - - CRC - PubMed: Dolwani 2007 Zero among 120 CRC cases and 100 controls - - India Indian subcontinent - - - - - Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X); Y90X - MUTYH_000032 O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_10 PubMed: Croitoru 2007, PubMed: O Shea 2008 - F - Canada - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - PubMed: Sampson 2003 - - Unknown - - - - - DNA SEQ - - ? PMID12853198_1 PubMed: Sampson 2003 - - - Pakistan - - - - - 1 Carli Tops
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - PubMed: Piccioli 2006 - - Unknown - - - - - DNA SEQ - - ? PMID16455870_2 PubMed: Piccioli 2006 - - - (Italy) - - - - - 1 Carli Tops
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Parent #1 - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - PubMed: Jones 2002; OMIM:var0004 - - Unknown - - - - - DNA SEQ - - ? PMID12393807_2 PubMed: Jones 2002, OMIM:var0004 - - - Pakistan Pakistan - - - - 1 Carli Tops
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - 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 - - France - - - - - 2 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Parent #1 - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X); Tyr90X - MUTYH_000032 Review PubMed: Pineda 2009 reviewed: PubMed: Sampson 2003 - - Unknown - - - - - DNA ? - - - - - - - - - - - - - - - -
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC 16890597_7 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_8 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X); Y90X - MUTYH_000032 - PubMed: Ponti 2007 - - Germline - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 17273161_fam_3_1 PubMed: Ponti 2007 Attenuated colonic polyposis - - Italy - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X); Y90X - MUTYH_000032 - PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 17219385_5_proband PubMed: Croitoru 2007, PubMed: O Shea 2008 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative F - (Canada);Italy Italy - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X); Y90X - MUTYH_000032 - PubMed: Croitoru 2007 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, test known variants (relatives) CRC 17219385_5_relatives_90X PubMed: Croitoru 2007 7 relatives of #1010680 with Y90X/-: 2 with 1 polyp; 2 unaffected; 2 AFAP; 1 CRC - - Canada Italy - - - - 7 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X); Y190X (?) - MUTYH_000032 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_12 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_18 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - PubMed: Cattaneo 2008 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Cattaneo 2008 first in family M - Italy - - - - - 1 Carli Tops
+/. 3 c.312C>A r.(312c>a) p.(Tyr104X) - Unknown - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - PubMed: Jenkins 2005 - - Germline - - - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (index) CRC 16492921_c312_c536 PubMed: Jenkins 2005 kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk - - Canada - - - - - 1 Astrid Out
+/. 3 c.312C>A r.(?) p.(Tyr104X) - Parent #1 - pathogenic g.45799121G>T g.45333449G>T 270C>A (Tyr90X) - MUTYH_000032 - Human Genetics, UH Gasthuisberg, Leuven, BE - - Germline - - - - - DNA SEQ leukocyte - ? - Human Genetics, UH Gasthuisberg, Leuven, BE - F - Belgium - - - - - 1 Bruno Vankeirsbilck
+/. - c.312C>A r.(?) p.(Tyr104*) - Unknown - pathogenic g.45799121G>T g.45333449G>T disruptive variant - MUTYH_000032 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - CRC - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 3 c.312C>A r.(?) p.Tyr104* - Unknown - NA g.45799121G>T g.45333449G>T 18534194_glycosylase_Y90X - MUTYH_000032 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.312C>A r.(?) p.Tyr104* - Unknown - NA g.45799121G>T g.45333449G>T 18534194_binding_Y90X - MUTYH_000032 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.312C>A r.(?) p.Tyr104* - Unknown - NA g.45799121G>T g.45333449G>T 18534194_protein_Y90X - MUTYH_000032 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.312C>A r.(?) p.(Tyr104Ter) - Unknown - pathogenic g.45799121G>T g.45333449G>T - - MUTYH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.312C>A r.(?) p.(Tyr104*) - Parent #1 - pathogenic g.45799121G>T g.45333449G>T - - MUTYH_000032 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908380 Germline - 5/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.312C>A r.(?) p.(Tyr104*) - Parent #1 - NA g.45799121G>T - chr1_45799121_G_T - MUTYH_000032 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.312C>A r.(?) p.(Tyr104*) - Parent #1 - NA g.45799121G>T - chr1_45799121_G_T - MUTYH_000032 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
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.