Full data view for gene MUTYH


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

31 entries on 1 page. Showing entries 1 - 31.
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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.1544C>T r.(?) p.(Ser515Phe) - Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1544C>T r.(?) p.(Ser515Phe) - Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1544C>T r.(?) p.(Ser515Phe) - Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1544C>T r.(?) p.(Ser515Phe) - Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1544C>T r.(?) p.(Ser515Phe) - Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1544C>T r.(?) p.(Ser515Phe) - Unknown - likely benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Görgens 2006 - - Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 3/50 (6%) HNPCC patients (42/50 <50 years); (2.6% of 116 controls) - - Germany white - - - - 3 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Kambara 2004 - - Unknown - - - - - DNA DHPLC, SEQ - - CRC - PubMed: Kambara 2004 5 Sporadic CRC patients - - Australia - - - - - 5 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Kambara 2004 - - Unknown - - - - - DNA DHPLC, SEQ - - ? - PubMed: Kambara 2004 2 healthy blood donors - - Australia - - - - - 2 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Halford 2003 - - Unknown - - - - - DNA SEQ - - ? PMID12707038_2 PubMed: Halford 2003 - - - (United Kingdom (Great Britain)) - - - - - 1 Carli Tops
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Fleischmann 2004 - - Unknown - - - - - DNA SEQ - - ? PMID14991577_4 PubMed: Fleischmann 2004 - - - - - - - - - 1 Carli Tops
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Al-Tassan 2002 - - Unknown - - - - - DNA DHPLC - - ? PMID11818965_control5 PubMed: Al-Tassan 2002 3% allele frequency in 100 controls - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Al-Tassan 2002 - - Unknown - - - - - DNA DHPLC - - CRC PMID11818965_CRC3 PubMed: Al-Tassan 2002 3% allele frequency in 42 individuals with CRC 40 y or younger or one or more first degree relatives with CRC - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Al-Tassan 2002 - - Unknown - - - - - DNA DHPLC - - ? PMID11818965_AFAP3 PubMed: Al-Tassan 2002 3% allele frequency in 16 indiduals with 3-50 adenomas with or without carcinoma - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Al-Tassan 2002 - - Unknown - - - - - DNA DHPLC - - ? PMID11818965_MA12 PubMed: Al-Tassan 2002 3 adenomas + CRC - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - 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 - - - - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Parent #2 - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Küry 2007 - - Unknown - - - - - DNA TaqMan, SEQ - - ? - PubMed: Küry 2007 4/1121 healthy controls - - France white - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Parent #1 - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe); S501F - MUTYH_000094 - PubMed: Zhou 2005 - - Unknown - 2,1% of n=84 - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_10 PubMed: Zhou 2005 2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Lejeune 2006 - - Unknown - - - - - DNA SEQ - SEQ (ex1-16), screen MUTYH gene (index) CRC 16941501_c1544 PubMed: Lejeune 2006 Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect - - France - - - - - 1 Carli Tops
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - - Unknown - 9/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1544 PubMed: Peterlongo 2006 Among 80 patients 20 or less polyps and/or CRC; families 3 or more CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 9 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte screen MUTYH gene (index, group) polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 4/115 polyposis and/or CRC patients heterozygous c.[1014G>C(+)1544C>T], minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - 4 Mette Gaustadnes
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 1/115 polyposis and/or CRC patients homozygous c.1014G>C and heterozygous c.1544C>T, minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - 1 Mette Gaustadnes
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - 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
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 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
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Al-Tassan 2003 - - Germline - 9/540 (1.7%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c1544_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 9 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Al-Tassan 2003 - - Germline - 3/208 (1.4%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c1544_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 3 Astrid Out
?/. 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - Unknown - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - PubMed: Colebatch 2006 - - Germline - - - - - DNA SEQ leukocyte specific genotyping, screen MUTYH gene (index) CRC 17031395_patient_14838 PubMed: Colebatch 2006 872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic F - Australia - - - - - 1 Astrid Out
?/. 16 c.1544C>T r.(?) p.Ser515Phe - Unknown - NA g.45795084G>A g.45329412G>A 20848659_ S487F - MUTYH_000094 in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtyp PubMed: Goto 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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