All genomic variants

25460 entries on 255 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
0000024786 ?/? 1 g.? - - MUTYH_000314 - - Germline (inherited) - Astrid Out
0000025965 -/? 1 g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - Elke Holinski-Feder
0000025968 -/? 1 g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - Elke Holinski-Feder
0000026027 ?/? 1 g.? 1249C>A (Leu406Met) - MUTYH_000000 - - Unknown - Elke Holinski-Feder
0000027368 ?/? 1 g.45791154G>A g.15763072G>A Schafmayer 2007 MUTYH_000287 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous - Germline (inherited) - Astrid Out
0000027369 ?/? 1 g.45791154G>A g.15763072G>A Schafmayer 2007 MUTYH_000287 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous - Germline (inherited) - Astrid Out
0000027370 ?/? 1 g.45791154G>A g.15763072G>A Schafmayer 2007 MUTYH_000287 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous - Germline (inherited) - Astrid Out
0000027371 ?/? 1 g.45791154G>A g.15763072G>A Schafmayer 2007 MUTYH_000287 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous - Germline (inherited) - Astrid Out
0000027372 ?/? 1 g.45791154G>A g.15763072G>A Schafmayer 2007 MUTYH_000287 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous - Germline (inherited) - Astrid Out
0000027373 ?/? 1 g.45791154G>A g.15763072G>A Schafmayer 2007 MUTYH_000287 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous - Germline (inherited) - Astrid Out
0000024787 ?/? 1 g.45794612dup - - MUTYH_000317 - - Germline (inherited) - Astrid Out
0000027491 +?/? 1 g.45794768_45799052delinsTA - Torrezan et al.,2011 MUTYH_000323 - - Unknown - Giovana Torrezan
0000027502 +/? 1 g.45794768_45799052delinsTA - Rouleau et al.,2011 MUTYH_000323 - - Germline (inherited) - Etienne Rouleau
0000027839 ?/. 1 g.45794988del - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr1_000002 - - Germline (inherited) - Stephanie Baert-Desurmont
0000027563 ?/. 1 g.45794989C>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr1_000001 - - Germline (inherited) - Stephanie Baert-Desurmont
0000025807 ?/? 1 g.45795019T>C 1567A>G (Ile523Val) Olschwang 2007 MUTYH_000145 - - Unknown - Astrid Out
0000025655 ?/? 1 g.45795027C>T 1559G>A (Arg520Gln) Fleischmann 2004 MUTYH_000096 - - Unknown - Carli Tops
0000025657 ?/? 1 g.45795027C>T 1559G>A (Arg520Gln) Fleischmann 2004 MUTYH_000096 - - Unknown - Carli Tops
0000025806 -/? 1 g.45795027C>T 1559G>A (Arg520Gln) Olschwang 2007 MUTYH_000096 - - Unknown - Astrid Out
0000025987 -/? 1 g.45795027C>T 1559G>A (Arg520Gln) MGZ, MŸnchen, DE MUTYH_000096 - - Unknown - Elke Holinski-Feder
0000027252 -?/? 1 g.45795027C>T 1559G>A (Arg520Gln) Al-Tassan 2003 MUTYH_000096 - - Germline (inherited) - Astrid Out
0000027354 ?/? 1 g.45795027C>T 1559G>A (Arg520Gln); Q531R Schafmayer 2007 MUTYH_000096 1068 CRC patients and 738 controls: variant not found None found in 1068 German CRC patients; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans Germline (inherited) - Astrid Out
0000027355 ?/? 1 g.45795027C>T 1559G>A (Arg520Gln); Q531R Schafmayer 2007 MUTYH_000096 1068 CRC patients and 738 controls: variant not found None found in 738 German controls; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans Germline (inherited) - Astrid Out
0000024659 ?/? 1 g.45795031A>C - Hirano 2003 MUTYH_000207 - PCNA binding assay; mMUTYH containing 500/501FF changed to 500/501AA; PCNA pull down assay; No binding to PCNA (WT mMUTYH binds to PCNA) In vitro (cloned) - Astrid Out
0000024711 ?/? 1 g.45795031A>C - Hirano 2003 MUTYH_000207 - In vivo complementation assay; Mouse mMUTYH deficient embryonic stem cell line complementation assay with mMUTYH containing 500/501FF changed to 500/501AA; Retained ability to complement activity of mMUTYH, compared to WT In vitro (cloned) - Astrid Out
0000024658 ?/? 1 g.45795034A>C - Hirano 2003 MUTYH_000206 - PCNA binding assay; mMUTYH containing 500/501FF changed to 500/501AA; PCNA pull down assay; No binding to PCNA (WT mMUTYH binds to PCNA) In vitro (cloned) - Astrid Out
0000024710 ?/? 1 g.45795034A>C - Hirano 2003 MUTYH_000206 - In vivo complementation assay; Mouse mMUTYH deficient embryonic stem cell line complementation assay with mMUTYH containing 500/501FF changed to 500/501AA; Retained ability to complement activity of mMUTYH, compared to WT In vitro (cloned) - Astrid Out
0000025986 -/? 1 g.45795043G>T 1543C>A (Leu515Met) MGZ, MŸnchen, DE MUTYH_000177 - - Unknown - Elke Holinski-Feder
0000026599 ?/? 1 g.45795061G>A 1525C>T (Arg509Cys) Laboratoire d oncogenetique, APHP-GHPS, Paris, FR MUTYH_000215 - - Unknown - Chrystelle Colas
0000027188 ?/? 1 g.45795061G>A 1525C>T (Arg509Cys) Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000215 - - Unknown - Sylviane Olschwang
0000024791 ?/? 1 g.45795066del - - MUTYH_000316 - - Germline (inherited) - Astrid Out
0000025805 -/? 1 g.45795080C>T 1506G>A Olschwang 2007 MUTYH_000144 - - Unknown - Astrid Out
0000026783 ?/? 1 g.45795080C>T 1506G>A (Pro502Pro) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK MUTYH_000144 - - Unknown - Rikke Veggerby Grønlund
0000026785 ?/? 1 g.45795080C>T 1506G>A (Pro502Pro) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK MUTYH_000144 - - Unknown - Rikke Veggerby Grønlund
0000027261 -?/? 1 g.45795080C>T 1506G>A (Pro502Pro) Al-Tassan 2003 MUTYH_000144 - - Germline (inherited) - Astrid Out
0000025658 -/? 1 g.45795081G>A 1505C>T (Pro502Leu) Fleischmann 2004 MUTYH_000095 - - Unknown - Carli Tops
0000027251 -?/? 1 g.45795081G>A 1505C>T (Pro502Leu) Al-Tassan 2003 MUTYH_000095 - - Germline (inherited) - Astrid Out
0000024614 -/? 1 g.45795084G>A - Goto 2010 MUTYH_000094 - in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtyp In vitro (cloned) - Carli Tops
0000025339 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Görgens 2006 MUTYH_000094 - - Unknown - Astrid Out
0000025517 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Kambara 2004 MUTYH_000094 - - Unknown - Astrid Out
0000025518 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Kambara 2004 MUTYH_000094 - - Unknown - Astrid Out
0000025639 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Halford 2003 MUTYH_000094 - - Unknown - Carli Tops
0000025659 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Fleischmann 2004 MUTYH_000094 - - Unknown - Carli Tops
0000025739 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Al-Tassan 2002 MUTYH_000094 - - Unknown - Astrid Out
0000025742 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Al-Tassan 2002 MUTYH_000094 - - Unknown - Astrid Out
0000025745 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Al-Tassan 2002 MUTYH_000094 - - Unknown - Astrid Out
0000025746 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Al-Tassan 2002 MUTYH_000094 - - Unknown - Astrid Out
0000025804 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Olschwang 2007 MUTYH_000094 - - Unknown - Astrid Out
0000025814 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Küry 2007 MUTYH_000094 - - Unknown - Astrid Out
0000025985 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) MGZ, MŸnchen, DE MUTYH_000094 - - Unknown - Elke Holinski-Feder
0000026272 -?/? 1 g.45795084G>A 1502C>T (Ser501Phe); S501F Zhou 2005 MUTYH_000094 2,1% of n=84 - Unknown - Astrid Out
0000026320 -/? 1 g.45795084G>A 1502C>T (Ser501Phe) Lejeune 2006 MUTYH_000094 - - Unknown - Carli Tops
0000026473 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Peterlongo 2006 MUTYH_000094 9/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid Unknown - Astrid Out
0000026686 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Molecular Medicine, AUH, Skejby, Aarhus, DK MUTYH_000094 5/230 - Unknown - Mette Gaustadnes
0000026689 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Molecular Medicine, AUH, Skejby, Aarhus, DK MUTYH_000094 5/230 - Unknown - Mette Gaustadnes
0000026759 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Molecular Diagnostics, NSCR Demokritos, Athens, GR MUTYH_000094 - - Germline (inherited) - FLORENTIA FOSTIRA
0000027193 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Genetics, John Hunter Hospital, Newcastle, AU MUTYH_000094 - only variants reported, not genotypes Germline (inherited) - Rodney Scott
0000027245 -?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Al-Tassan 2003 MUTYH_000094 9/540 (1.7%) - Germline (inherited) - Astrid Out
0000027246 -?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Al-Tassan 2003 MUTYH_000094 3/208 (1.4%) - Germline (inherited) - Astrid Out
0000027316 ?/? 1 g.45795084G>A 1502C>T (Ser501Phe) Colebatch 2006 MUTYH_000094 - - Germline (inherited) - Astrid Out
0000025831 -?/? 1 g.45795192C>G 1477-83G>C; 1481-83G>C (intron 15) Küry 2007 MUTYH_000149 - - Unknown - Astrid Out
0000024765 ?/? 1 g.45795545C>T - - MUTYH_000315 - - Germline (inherited) - Astrid Out
0000025837 ?/? 1 g.? 1476+479_1476+480ins327 Clinical Genetics, LUMC, Leiden, NL MUTYH_000159 - - Germline (inherited) - Carli Tops
0000025855 ?/? 1 g.? 1476+479_1476+480ins327 Clinical Genetics, LUMC, Leiden, NL MUTYH_000159 - - Germline (inherited) - Carli Tops
0000027490 ?/? 1 g.? - Sun C et al.,2009 MUTYH_000319 43.2%,alleles the inserted fragment was highly homologous to the consensus of a conserved AluYb8 subfamily (u 14570, GenBank) in its reversed orientation. Germline (inherited) - Yaping Wang
0000024783 ?/? 1 g.45795901_45795902del - - MUTYH_000313 - - Germline (inherited) - Astrid Out
0000025714 ?/? 1 g.45796069C>T 1476+119G>A Clinical Genetics, LUMC, Leiden, NL MUTYH_000105 - - Germline (inherited) - Carli Tops
0000025958 ?/? 1 g.45796069C>T 1476+119G>A Clinical Genetics, LUMC, Leiden, NL MUTYH_000105 - - Germline (inherited) - Carli Tops
0000025701 ?/? 1 g.45796115G>A 1476+73C>T Clinical Genetics, LUMC, Leiden, NL MUTYH_000107 - - Germline (inherited) - Carli Tops
0000025702 ?/? 1 g.45796115G>A 1476+73C>T Clinical Genetics, LUMC, Leiden, NL MUTYH_000107 - - Germline (inherited) - Carli Tops
0000025859 ?/? 1 g.45796115G>A 1476+73C>T Clinical Genetics, LUMC, Leiden, NL MUTYH_000107 - - Germline (inherited) - Carli Tops
0000025860 ?/? 1 g.45796115G>A 1476+73C>T Clinical Genetics, LUMC, Leiden, NL MUTYH_000107 - - Germline (inherited) - Carli Tops
0000027187 ?/? 1 g.45796159C>T 1476+29G>A Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000279 - Alamut: no major splice site change predicted Unknown - Sylviane Olschwang
0000027260 -?/? 1 g.45796161C>T 1476+27G>A Al-Tassan 2003 MUTYH_000286 - - Germline (inherited) - Astrid Out
0000027186 ?/? 1 g.45796162G>A 1476+26C>T Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000278 - Alamut: make a possible strong splice acceptor site at c.1518+39 in intron 15 slightly stronger Unknown - Sylviane Olschwang
0000026490 +/? 1 g.45796186A>G 1476+2T>C; 1509+2T>C (Val479_Met492del) Dallosso 2008 MUTYH_000198 - Alamut: skip exon 15 very likely Germline (inherited) - Astrid Out
0000027047 ?/? 1 g.45796186A>G 1476+2T>C; 1509+2T>C (Val479_Met492del) Aretz 2006; Vogt 2009 MUTYH_000198 1/658 Alamut: skip exon 15 very likely Germline (inherited) - Stefan Aretz
0000025984 -/? 1 g.45796198C>T 1466G>A (Gly489Glu) MGZ, MŸnchen, DE MUTYH_000176 - - Unknown - Elke Holinski-Feder
0000025338 ?/? 1 g.45796212C>G 1452G>C (Gln484His) Görgens 2006 MUTYH_000117 - - Unknown - Astrid Out
0000025802 +/? 1 g.45796229C>A 1435G>T (Val479Phe) Olschwang 2007 MUTYH_000143 - Not found in 1022 sporadic CRC patients from the same region. Unknown - Astrid Out
0000025803 +/? 1 g.45796229C>A 1435G>T (Val479Phe) Olschwang 2007 MUTYH_000143 - Not found in 1022 sporadic CRC patients from the same region. Unknown - Astrid Out
0000025812 +?/? 1 g.45796229C>A 1435G>T (Val479Phe) Küry 2007 MUTYH_000143 0,1% (1/1023) sporadic CRC patients Not found in 1022 sporadic CRC patients from the same region. Unknown - Astrid Out
0000025817 +?/? 1 g.45796229C>A 1435G>T (Val479Phe) Küry 2007 MUTYH_000143 - Not found in 1022 sporadic CRC patients from the same region. Unknown - Astrid Out
0000026967 ?/? 1 g.45796229C>A 1435G>T (Val479Phe); V479F Aretz 2006 MUTYH_000143 1/658 Alamut: located at first nucleotide of exon 15; makes acceptor splice site of intron 14 slightly weaker Germline (inherited) - Stefan Aretz
0000027710 +/. 1 g.45796229C>A - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication MUTYH_000143 - - Germline (inherited) - Stephanie Baert-Desurmont
0000027804 +/. 1 g.45796229C>A - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication MUTYH_000143 - - Germline (inherited) - Stephanie Baert-Desurmont
0000025830 -?/? 1 g.45796246C>A 1435-17C>T Küry 2007 MUTYH_000148 - Alamut: no major splice site change predicted Unknown - Astrid Out
0000026028 ?/? 1 g.45796247G>A 1435-18C>T MGZ, MŸnchen, DE MUTYH_000188 - Splice Site prediction (NN Splice+NetGene2) negative; Alamut: no major splice site change predicted Unknown - Elke Holinski-Feder
0000026597 ?/? 1 g.45796256G>A 1435-27C>T Laboratoire d oncogenetique, APHP-GHPS, Paris, FR MUTYH_000214 - Alamut: no major splice site change predicted Unknown - Chrystelle Colas
0000026454 ?/? 1 g.45796257C>T 1435-28G>A Peterlongo 2006 MUTYH_000080 1/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected Unknown - Astrid Out
0000026598 ?/? 1 g.45796257C>T 1435-28G>A Laboratoire d oncogenetique, APHP-GHPS, Paris, FR MUTYH_000080 - Alamut: no major splice site change predicted Unknown - Chrystelle Colas
0000027259 -?/? 1 g.45796267T>C 1435-38A>G Al-Tassan 2003 MUTYH_000285 - - Germline (inherited) - Astrid Out
0000025344 -?/? 1 g.45796269C>G 1435-40G>C Görgens 2006 MUTYH_000106 12/50 (12%) HNPCC patients (42/50 <50 years); (1.7% (?) of 116 controls) - Unknown - Astrid Out
0000025345 -?/? 1 g.45796269C>G 1435-40G>C Görgens 2006 MUTYH_000106 0,9% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - Unknown - Astrid Out
0000025675 -?/? 1 g.45796269C>G 1435-40G>C Isidro 2004 MUTYH_000106 0.083 - Unknown - Carli Tops
0000025840 -?/? 1 g.45796269C>G 1435-40G>C Clinical Genetics, LUMC, Leiden, NL MUTYH_000106 - Alamut: no major splice site change predicted Germline (inherited) - Carli Tops
0000025848 -?/? 1 g.45796269C>G 1435-40G>C Clinical Genetics, LUMC, Leiden, NL MUTYH_000106 - Alamut: no major splice site change predicted Germline (inherited) - Carli Tops
0000025878 -?/? 1 g.45796269C>G 1435-40G>C Tao 2008 MUTYH_000106 - Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Unknown - Astrid Out
0000025880 -?/? 1 g.45796269C>G 1435-40G>C Tao 2008 MUTYH_000106 - Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Unknown - Astrid Out
0000025882 -?/? 1 g.45796269C>G 1435-40G>C Tao 2008 MUTYH_000106 - Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Unknown - Astrid Out
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