Full data view for gene MUTYH


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

51 entries on 1 page. Showing entries 1 - 51.
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+?/. - c.1214C>T r.(?) p.(Pro405Leu) - Parent #1 - likely pathogenic g.45797201G>A g.45331529G>A - - MUTYH_000077 only 4 polypoid structures reported. PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+/. - c.1214C>T r.(?) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1214C>T r.(?) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1214C>T r.(?) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Bouguen 2007 - - Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, rectal - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte hotspot mutation analysis (index) ? - Clinical Genetics, LUMC, Leiden, NL - M - Belgium - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+?/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - likely pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 1/230 - - - DNA SEQ leukocyte - polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - 1 Mette Gaustadnes
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - (Netherlands) - - - - - 1 Ans M.W. van den Ouweland
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - (Netherlands) - - - - - 1 Ans M.W. van den Ouweland
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - (Netherlands) - - - - - 1 Ans M.W. van den Ouweland
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Vogt 2009, PubMed: Nielsen 2009a - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009, PubMed: Nielsen 2009a - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Vogt 2009, PubMed: Nielsen 2008, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009, PubMed: Nielsen 2008, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Vogt 2009, PubMed: Nielsen 2009a - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Vogt 2009, PubMed: Nielsen 2009a - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 1/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) ? - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 Two c.536A>G or c.1187G>A heterozygous patients (out of 45) carrier of MTH1 variant R31Q; One of these two also carrier of pathogenic MUTYH c.1214C>T variant PubMed: Farrington 2005 - - Germline - - - - - DNA SEQ leukocyte allelic discrimination, screen MUTYH gene (group) CRC 15931596_two_patients_c536_or_c1187_and_c1214 PubMed: Farrington 2005 2 patients heterozygous for c.536A>G or c.1187G>A, of whom one also heterozygous for c.1214C>T (c.1214C>T in 1 (0.04%) of 2,239 CRC patients); population based association study - - Scotland - - - - - 1 Astrid Out
+/. 13 c.1214C>T r.(?) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Human Genetics, UH Gasthuisberg, Leuven, BE - - Germline - - - - - DNA SEQ leukocyte - ? - Human Genetics, UH Gasthuisberg, Leuven, BE - F - Belgium - - - - - 1 Bruno Vankeirsbilck
+/. 13 c.1214C>T r.(?) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Human Genetics, UH Gasthuisberg, Leuven, BE - - Germline - - - - - DNA SEQ leukocyte - ? - Human Genetics, UH Gasthuisberg, Leuven, BE - F - Belgium - - - - - 1 Bruno Vankeirsbilck
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #1 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu); P391L - MUTYH_000077 APC variants: c.721G>A/p.E241K, c.3949G>C/p.E1317Q, c.5285G>A/p.A1765A and c.7504G>A/p.G2802S PubMed: Kanter-Smoler 2006 - - Germline - 3/30 alleles - - - DNA SEQ - screen MUTYH gene (index) CRC PMID16616356_3 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients M - Sweden - - - - - 1 Astrid Out
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Parent #2 - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu); P391L - MUTYH_000077 APC variants: c.721G>A/p.E241K, c.3949G>C/p.E1317Q, c.5285G>A/p.A1765A and c.7504G>A/p.G2802S PubMed: Kanter-Smoler 2006 - - Germline - 3/30 alleles - - - DNA SEQ - screen MUTYH gene (index) CRC PMID16616356_3 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients M - Sweden - - - - - 1 Astrid Out
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu); P391L - MUTYH_000077 - PubMed: Kanter-Smoler 2006 - - Germline - 3/30 alleles - - - DNA SEQ - screen MUTYH gene (index) CRC PMID16616356_4 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients F - Sweden - - - - - 1 Astrid Out
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu); P391L - MUTYH_000077 Variant not found in 96 Swedish controls PubMed: Kanter-Smoler 2006 - - Germline - 0/192 alleles - - - DNA DHPLC, SEQ - test known variant (group) ? PMID16616356_1214_controls PubMed: Kanter-Smoler 2006 variant NOT detected in 96 controls - - Sweden - - - - - - Astrid Out
+/. 13 c.1214C>T r.(1214c>u) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A 1172C>T (Pro391Leu) - MUTYH_000077 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index patient) ? - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - (Netherlands) - - - - - 1 Ans M.W. van den Ouweland
+/. 13 c.1214C>T r.(?) p.Pro405Leu C-terminal domain Unknown - NA g.45797201G>A g.45331529G>A 19836313_1214_ecoli - MUTYH_000077 In vivo complementation assay; Mutant MUTYH function in MutY/MutM deficient E. Coli; No complementation; MUTYH expressed as fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria) PubMed: Kundu 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1214C>T r.(?) p.Pro405Leu C-terminal domain Unknown - NA g.45797201G>A g.45331529G>A 19836313_1214_glyco - MUTYH_000077 In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; rate of adenine removal 29% of WT MUTYH; Purified MUTYH fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria) PubMed: Kundu 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1214C>T r.(?) p.Pro405Leu - Unknown - NA g.45797201G>A g.45331529G>A 20848659_ P377L - MUTYH_000077 in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective PubMed: Goto 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1214C>T r.(?) p.Pro405Leu NUDIX domain Unknown - NA g.45797201G>A g.45331529G>A 16616356_1214_structure - MUTYH_000077 In silico analysis; In silico structure/conservation analysis; Highly conserved position; from a protein folding perspective likely to destabilyze the NUDIX domain PubMed: Kanter-Smoler 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1214C>T r.(?) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1214C>T r.(?) p.(Pro405Leu) - Unknown - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1214C>T r.(?) p.(Pro405Leu) - Unknown ACMG pathogenic g.45797201G>A g.45331529G>A - - MUTYH_000077 ACMG grading: PM2,PP3,PP5,PS3,PM5; reported in Nielsen 2005. J Med Genet 42: e54; Komine 2015. Hum Mutat 36: 704 - - rs529008617 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.1214C>T r.(?) p.(Pro405Leu) - Parent #1 - NA g.45797201G>A - chr1_45797201_G_A - MUTYH_000077 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 - 12/60466 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 - 12 BRIDGES consortium
?/. - c.1214C>T r.(?) p.(Pro405Leu) - Parent #1 - NA g.45797201G>A - chr1_45797201_G_A - MUTYH_000077 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 - 18/53461 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 - 18 BRIDGES consortium
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