Full data view for gene MUTYH


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

65 entries on 1 page. Showing entries 1 - 65.
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     
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1437_1439del, 1434_1436del (Glu466del) - MUTYH_000086 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - 1/38 (3%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - 2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - 2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - 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
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - 2/31 (6%) APC neg AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - 2/31 (6%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; , 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - 1/31 (3%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Lipton 2003 - - Unknown - - - - - DNA SEQ - - ? PMID14633673_3 PubMed: Lipton 2003 - - - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - - - - 1 Carli Tops
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Gismondi 2004 - - Unknown - - - - - DNA SEQ - - ? PMID14999774_1 PubMed: Gismondi 2004 - - - - - - - - - 1 Carli Tops
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Piccioli 2006 - - Unknown - - - - - DNA SEQ - - ? PMID16455870_1 PubMed: Piccioli 2006 - - - Italy - - - - - 1 Carli Tops
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Both (homozygous) - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Vogt 2009; Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009; Clinical Genetics, LUMC, Leiden, NL - M - Turkey - - - - - 1 Carli Tops
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - 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 - - Italy - - - - - 3 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del; 1395-7 delGGA (Glu466del) - MUTYH_000086 - PubMed: Halford 2003 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Halford 2003 53y right-sided, moderately differentiated, Dukes B cancer, no reported family history of colorectal tumors, multiple small adenomas synchronous with the carcinoma. - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del; 1392delGGA (Glu465del) - MUTYH_000086 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany no known clinic, sample received from cooperating lab - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); (Glu466fs) - MUTYH_000086 - PubMed: Filipe 2009 - - Germline - - - - - DNA SSCA, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Filipe 2009 39/48 FAP patients (>100 adenomas): APC mutation; 3/9 (33%) of APC negative FAP patients: MUTYH mutations - - Portugal - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); Glu466del - MUTYH_000086 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_3 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); Glu466del - MUTYH_000086 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_3 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del); delGGA464 - MUTYH_000086 - PubMed: Ponti 2007 - - Germline - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 17273161_fam_3_1 PubMed: Ponti 2007 Attenuated colonic polyposis - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395delGGA (exon 14) - MUTYH_000086 - PubMed: Cattaneo 2008 - - Unknown - 0/1290 - - - DNA PCRdig leukocyte test known variant (645 controls) ? - PubMed: Cattaneo 2008 645 healty controls - - Greece;Italy - - - - - - Carli Tops
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - 1 Mette Gaustadnes
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - 1 Mette Gaustadnes
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - 1 Mette Gaustadnes
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); Glu466del - MUTYH_000086 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) ? 16890597_4 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); Glu466del - MUTYH_000086 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_7 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); Glu466del - MUTYH_000086 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) ? 16890597_9 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del); Glu466del - MUTYH_000086 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) ? 16890597_9 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers M - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del) - MUTYH_000086 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - - Unknown - 1/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC - PubMed: Peterlongo 2006 137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+ - - Italy - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte - polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - 1 Mette Gaustadnes
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte - polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - 1 Mette Gaustadnes
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Both (homozygous) - pathogenic g.45796895_45796897del g.45331223_45331225del - - MUTYH_000086 - Redeker (unpublished); AMC, Amsterdam, NL - - Germline - - - - - DNA SEQ - - CRC - Redeker (unpublished); AMC, Amsterdam, NL - M - Iran - - - - - 1 Bert Redeker
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Both (homozygous) - pathogenic g.45796895_45796897del g.45331223_45331225del 1437_1439del, 1434_1436del (Glu466del) - MUTYH_000086 - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - - Unknown - - - - - DNA SEQ - - polyposis - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - M - (Sweden) - - - - - 1 Kristina Lagerstedt Robinson
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ leukocyte screen MUTYH gene (index) CRC - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece Greek - - - - 1 Florentia Fostira
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del (Glu466del) - MUTYH_000086 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece - - - - - 1 Florentia Fostira
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Aretz 2006 - - Germline - 8/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #1 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Parent #2 - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del - MUTYH_000086 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 14 c.1437_1439del r.(1437_1439del) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397del; 1395delGGA (Glu466del) - MUTYH_000086 - PubMed: Colebatch 2006 - - Germline - 1/1744 (0,06%) - - - DNA SEQ leukocyte specific genotyping, screen MUTYH gene (index) CRC 17031395_patient_13714 PubMed: Colebatch 2006 872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic M - Australia - - - - - 1 Astrid Out
+/. 14 c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del 1395_1397delGGA (Glu466del) - MUTYH_000086 - Spier and Aretz (unpublished) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ leukocyte - polyposis - Spier and Aretz (unpublished) - F - Bulgaria - - - - - 1 Carli Tops
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del - - MUTYH_000086 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del - - MUTYH_000086 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - CRC - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+?/. 14 c.1437_1439del r.(?) p.Glu480del MutT-like domain Unknown - NA g.45796895_45796897del g.45331223_45331225del 19953527_1437_1439_MEF - MUTYH_000086 In vivo complementation assay; Mutant MUTYH expression and function in MUTYH null mouse embryonic fibroblasts; Lower protein expression compared to wild-type and much less 8-oxodG repair; in nucleus of proliferating cells (like WT); Expression from transfected plasmid with site-directed mutated human MutYgamma3 cDNA (RefSeq: NM_001048173.1) PubMed: Molatore 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1437_1439del r.(?) p.Glu480del - Unknown - NA g.45796895_45796897del g.45331223_45331225del 20848659_452delE - MUTYH_000086 in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective PubMed: Goto 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1437_1439del r.(?) p.Glu480del MutT-like domain Unknown - NA g.45796895_45796897del g.45331223_45331225del 19953527_1437_1439_vitro - MUTYH_000086 In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; Devoid of detectable glycosylase activity PubMed: Molatore 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1437_1439del r.(?) p.Glu480del - Unknown - NA g.45796895_45796897del g.45331223_45331225del 20418187_c1437_1439_glycosylase - MUTYH_000086 In vitro glycosylase assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; glycosylase activity totally abrogated PubMed: D Agostino 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1437_1439del r.(?) p.Glu480del MutT-like domain Unknown - NA g.45796895_45796897del g.45331223_45331225del 19953527_1437_1439_survival - MUTYH_000086 In vivo cell survival assay; Cell survival after induced oxidative stress; hypersensitivity to toxic agent effect and decreased survival capability compared to WT PubMed: Molatore 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1437_1439del r.(?) p.Glu480del - Unknown - NA g.45796895_45796897del g.45331223_45331225del 20418187_c1437_1439_binding - MUTYH_000086 In vitro DNA binding assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; severe reduction in the binding affinity PubMed: D Agostino 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1437_1439del r.(?) p.Glu480del - Unknown ACMG pathogenic g.45796895_45796897del g.45331223_45331225del - - MUTYH_000086 patient with pathogenic WT1 variant:: nephroblastoma at age of 6 month, 2 brothers of the grandfather ms tumors at age 35 y. and 50y (unknown tumors), sister of grandfahter BC; reported in Halford 2003. Am J Pathol 162: 1545; Vogt 2009. Gastroenterology 137: 1976; Goto 2010. Hum Mutat 31: 1861 - - rs587778541 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del - MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del - MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1437_1439del r.(?) p.(Glu480del) - Unknown - pathogenic g.45796895_45796897del - MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.