Full data view for gene MUTYH


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

32 entries on 1 page. Showing entries 1 - 32.
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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     

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Owner     
-/. - c.1435-40C>G r.(?) p.(=) - Unknown - benign g.45796269G>C g.45330597G>C - - MUTYH_000106 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1435-40C>G r.(?) p.(=) - Unknown - benign g.45796269G>C g.45330597G>C - - MUTYH_000106 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1435-40C>G r.(?) p.(=) - Unknown - benign g.45796269G>C g.45330597G>C - - MUTYH_000106 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1435-40C>G r.(?) p.(=) - Both (homozygous) - benign g.45796269G>C g.45330597G>C - - MUTYH_000106 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1435-40C>G r.(?) p.(=) - Both (homozygous) - benign g.45796269G>C g.45330597G>C - - MUTYH_000106 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1477-40C>G r.(=) p.(=) - Unknown - benign g.45796269G>C g.45330597G>C MUTYH(NM_001128425.1):c.1477-40C>G - MUTYH_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. DUPLICATE – to be removed - rs3219493 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Görgens 2006 - rs3219493 Unknown - 12/50 (12%) HNPCC patients (42/50 <50 years); (1.7% (?) of 116 controls) - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 - - - Germany white - - - - 12 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Parent #1 - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Görgens 2006 - rs3219493 Unknown - 0,9% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - - - DNA SEQ - - ? - PubMed: Görgens 2006 - - - Germany white - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Isidro 2004 - rs3219493 Unknown - 0.083 - - - DNA SEQ - - ? PMID15366000_2 PubMed: Isidro 2004 - - - Portugal - - - - - 1 Carli Tops
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Alamut: no major splice site change predicted Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Clinical Genetics, LUMC, Leiden, NL - rs3219493 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Alamut: no major splice site change predicted Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Clinical Genetics, LUMC, Leiden, NL - rs3219493 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tao 2008 - rs3219493 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 140 (20.4%) among 685 CRC patients; Haplotype 10.7% - - Japan - - - - - 140 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tao 2008 - rs3219493 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 143 (18.4%) among 778 control subjects; Haplotype 9.8% - - Japan - - - - - 143 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Both (homozygous) - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tao 2008 - rs3219493 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 6 (0.9%) among 685 CRC patients. Haplotype 10.7% - - Japan - - - - - 6 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Both (homozygous) - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tao 2008 - rs3219493 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 7 (0.9%) among 778 control subjects; Haplotype 9.8% - - Japan - - - - - 7 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(?) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Barnetson 2007 - rs3219493 Unknown - 0.07 (?); n=225 - - - DNA SEQ - - cancer, endometrial PMID17956577_10 PubMed: Barnetson 2007 detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified. - - Ireland - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C; IVS14-40G>C - MUTYH_000106 www.fruitfly.org: no splicing effect Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Zhou 2005 - rs3219493 Unknown - 12,8% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_9 PubMed: Zhou 2005 - - - Sweden - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C; IVS15-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yanaru-Fujisawa 2008 - rs3219493 Germline - 9/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C; IVS15-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yanaru-Fujisawa 2008 - rs3219493 Germline - 9/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C; IVS15-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yanaru-Fujisawa 2008 - rs3219493 Germline - 9/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Parent #1 - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Peterlongo 2006 - rs3219493 Unknown - 18/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1477-40_hom PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Parent #2 - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Peterlongo 2006 - rs3219493 Unknown - 18/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1477-40_hom PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Al-Tassan 2003 - rs3219493 Germline - 45/546 (8.2%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c1477-40_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Al-Tassan 2003 - rs3219493 Germline - 45/546 (8.2%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c1477-40_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Al-Tassan 2003 - rs3219493 Germline - 20/210 (9.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c1477-40_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 2 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Peterlongo 2006 - rs3219493 Unknown - 18/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1477-40_het PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 16 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Al-Tassan 2003 - rs3219493 Germline - 20/210 (9.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c1477-40_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 2 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Al-Tassan 2003 - rs3219493 Germline - 45/546 (8.2%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c1477-40_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 43 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Al-Tassan 2003 - rs3219493 Germline - 20/210 (9.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c1477-40_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 16 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Görgens 2007 - rs3219493 Germline - 3/58 (5.2%) - - - DNA SEQ leukocyte screen MUTYH gene (group) cancer, head/neck 17207658_patients_c1477-40 PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous - - Germany white - - - - 3 Astrid Out
?/. 14i c.1477-40G>C r.(=) p.(=) - Unknown - VUS g.45796269C>G - 1435-40G>C - MUTYH_000106 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Görgens 2007 - rs3219493 Germline - 5/60 (8.3%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c1477-40 PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous - - Germany white - - - - 5 Astrid Out
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