Full data view for gene MUTYH


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

13 entries on 1 page. Showing entries 1 - 13.
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     
?/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - VUS g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Parent #2 - pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 evolutionary conserved (Chmiel 2003); pseudo hhh motifbelieved to be involved in substrate recognition; only variants close to Tyr179Cys and Gly382Asp detected PubMed: Wang 2004 - - Unknown - - - - - DNA MCA, SEQ leukocyte genotyping, test known variant (group) ? PMID15236166_32 PubMed: Wang 2004 among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic F - United States - - - - - 1 Carli Tops
?/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - VUS g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - 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) - - - - - 1 Astrid Out
?/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - VUS g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - VUS g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - - - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59 - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - - - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany not yet affected (her mother was diagnosed with attenuated familial polyposis coli, because of a carcinoma coli and recurrent adenomas of the tubulovilli kind). variatns also in mother - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - - - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany diverticulosis, suspicious of Lynch-Syndrome, carcinogenic polyps of the rectum - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Parent #1 - pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 conserved domain MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany suspicious of aFAP, no family history - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 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_11 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 - PubMed: Cattaneo 2008 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Cattaneo 2008 recessive inheritance (see paper) F - Italy - - - - - 1 Carli Tops
+?/. 7 c.544C>T r.(544c>u) p.(Arg182Cys) - Unknown - likely pathogenic g.45798467G>A g.45332795G>A 502C>T (Arg168Cys) - MUTYH_000040 MSH6: c.1770C4T;p.Pro590Pro; MLH1: c.2146G4A;p.Val716Met PubMed: Steinke 2008 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Steinke 2008 64 carriers of an MSH6 germline mutation: two monoallelic MUTYH mutations (3.1%) F - Netherlands - - - - - 1 Astrid Out
+?/. - c.544C>T r.(?) p.Arg182Cys - Unknown ACMG likely pathogenic g.45798467G>A g.45332795G>A - - MUTYH_000040 ACMG grading: PM2,PP5,PM5,PP3; triple neg BC at age 74y - - rs747993448 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.544C>T r.(?) p.(Arg182Cys) - Parent #1 - NA g.45798467G>A - chr1_45798467_G_A - MUTYH_000040 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 - 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.