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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?/. - c.1276C>T r.(?) p.(Arg426Cys) - Parent #1 - VUS g.45797139G>A g.45331467G>A - - MUTYH_000081 SIFT: Deleteriouse; PolyPhen-2: benign (PSIC: 0,003) - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1276C>T r.(?) p.(Arg426Cys) - Unknown - likely benign g.45797139G>A g.45331467G>A MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276C>T r.(?) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - PubMed: Aceto 2005 - - Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - - - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - - - - 1 Astrid Out
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - PubMed: Fleischmann 2004 - - Unknown - - - - - DNA SEQ - - ? PMID14991577_9 PubMed: Fleischmann 2004 - - - - - - - - - 1 Carli Tops
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 Polyphen: possibly damaging; not in 500 control chromosomes PubMed: Gómez-Fernández 2009 - - Unknown - - - - - DNA SSCA, SEQ leukocyte Taqman 4 variants, screen MUTYH gene (index) cancer, colon PMID19531215_7 PubMed: Gómez-Fernández 2009 - - - Spain Galician or Catalonian - - - - 1 Astrid Out
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - Medical Genetics, University Hospital Basel, Basel, CH - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - Medical Genetics, University Hospital Basel, Basel, CH - - - Switzerland - - - - - 1 Karl Heinimann
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - PubMed: Aretz 2006 - - Germline - 1/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis 16557584_c1276 PubMed: Aretz 2006 allele frequency among 329 polyposis patients - - (Germany) - - - - - 1 Stefan Aretz
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 only variants reported, not genotypes Genetics, John Hunter Hospital, Newcastle, AU - - Germline - - - - - DNA SEQ - screen MUTYH gene ? - Genetics, John Hunter Hospital, Newcastle, AU - - - Australia - - - - - 1 Rodney Scott
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - Genetics, UMCG, Groningen, NL - - Unknown - - - - - DNA DGGE, SEQ - - ? - Genetics, UMCG, Groningen, NL - - - Netherlands - - - - - 1 Renee Niessen
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - PubMed: Al-Tassan 2003 - - Germline - - - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patient 405 PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 - PubMed: Al-Tassan 2003 - - Germline - - - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_control_unpublished PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 13 c.1276C>T r.(1276c>u) p.(Arg426Cys) - Unknown - VUS g.45797139G>A g.45331467G>A 1234C>T (Arg412Cys) - MUTYH_000081 Variant found in 1/96 Swedish controls PubMed: Kanter-Smoler 2006 - - Germline - 1/192 alleles, 1/96 healthy Swedish controls - - - DNA DHPLC, SEQ - test known variant (group) ? PMID16616356_1276_controls PubMed: Kanter-Smoler 2006 - - - Sweden - - - - - 1 Astrid Out
?/. - c.1276C>T r.(?) p.Arg426Cys - Unknown ACMG VUS g.45797139G>A g.45331467G>A - - MUTYH_000081 clinical attenuated polyposis coli, positive family history of colonic polyps / compound heterozygous for c.1276C>T (p,Arg426Cys) and c.536A>G (p.Tyr179Cys) in patient; reported in Aretz 2006. Int J Cancer 119: 807; Komine 2015. Hum Mutat 36: 704; Ricci 2017. J Hum Genet 62: 309 - - rs150792276 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.1276C>T r.(?) p.(Arg426Cys) - Unknown - VUS g.45797139G>A - MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276C>T r.(?) p.(Arg426Cys) - Unknown - VUS g.45797139G>A - MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276C>T r.(?) p.(Arg426Cys) - Unknown - VUS g.45797139G>A - MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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