Full data view for gene MUTYH


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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - VUS g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - VUS g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 - PubMed: Isidro 2004 - - Unknown - - - - - DNA SEQ - - ? PMID15366000_6 PubMed: Isidro 2004 - - - Portugal - - - - - 1 Carli Tops
+/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Parent #1 - pathogenic g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - likely pathogenic g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 well conserved (from bacteria to man); sebaceous tumor: BRAF V600E (c.1799T>A) mutation; no somatic mutation KRas/NRas/APC PubMed: Ponti 2005; PubMed: Ponti 2007 - - Unknown - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC 16207212_index PubMed: Ponti 2005, PubMed: Ponti 2007 brother 1 adenoma (34); sister 1 adenoma (36); father non-Hodgkin lymphoma (<68); paternal uncle bladder cancer (<57); daughter sebaceous adenomas (infancy) F - Italy - - - - - 1 Astrid Out
+?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - likely pathogenic g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 well conserved (from bacteria to man) PubMed: Ponti 2005 - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (relative) ? 16207212_sister PubMed: Ponti 2005 sister of #1010507 F - Italy - - - - - 1 Astrid Out
+/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - pathogenic g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 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_17 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - VUS g.45798466C>T g.45332794C>T 503G>A (Arg168His) - MUTYH_000041 - Medical Genetics, University Hospital Basel, Basel, CH - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Medical Genetics, University Hospital Basel, Basel, CH - - - Switzerland - - - - - 1 Karl Heinimann
?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - VUS g.45798466C>T g.45332794C>T 503G>A (Arg168His); R168H - MUTYH_000041 - PubMed: Aretz 2006 - - Germline - 2/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
?/. 7 c.545G>A r.(545g>a) p.(Arg182His) - Unknown - VUS g.45798466C>T g.45332794C>T 503G>A (Arg168His); R168H - MUTYH_000041 - PubMed: Aretz 2006 - - Germline - 2/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+?/. 7 c.545G>A r.(?) p.Arg182His - Unknown - NA g.45798466C>T g.45332794C>T 20848659_R154H - MUTYH_000041 in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective PubMed: Goto 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.545G>A r.(?) p.Arg182His - Unknown ACMG pathogenic g.45798466C>T g.45332794C>T - - MUTYH_000041 Invasiv-tubular BC at age 47y left side and contralateral BC at age 60y. HBOC 34 gene panel negative result; reported in Isidro 2004. Hum Mutat 24: 353; Komine 2015. Hum Mutat 36: 704; AlDubayan 2018. A J Hum Genet 102: 401 - - rs143353451 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.545G>A r.(?) p.(Arg182His) - Unknown - pathogenic g.45798466C>T g.45332794C>T MUTYH(NM_001128425.2):c.545G>A (p.R182H) - MUTYH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545G>A r.(?) p.(Arg182His) - Parent #1 - NA g.45798466C>T - chr1_45798466_C_T - MUTYH_000041 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 - 5/60466 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 - 5 BRIDGES consortium
?/. - c.545G>A r.(?) p.(Arg182His) - Parent #1 - NA g.45798466C>T - chr1_45798466_C_T - MUTYH_000041 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
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