Full data view for gene MUTYH


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

14 entries on 1 page. Showing entries 1 - 14.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln) - MUTYH_000096 - DUPLICATE – to be removed - rs3219497 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln) - MUTYH_000096 - PubMed: Fleischmann 2004 - rs3219497 Unknown - - - - - DNA SEQ - - ? PMID14991577_1 PubMed: Fleischmann 2004 - - - - - - - - - 1 Carli Tops
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln) - MUTYH_000096 - PubMed: Fleischmann 2004 - rs3219497 Unknown - - - - - DNA SEQ - - ? PMID14991577_2 PubMed: Fleischmann 2004 - - - - - - - - - 1 Carli Tops
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln) - MUTYH_000096 - PubMed: Olschwang 2007 - rs3219497 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.1601G>A r.(1601g>a) p.(Arg534Gln) - Parent #1 - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln) - MUTYH_000096 - MGZ, Munchen, DE - rs3219497 Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln) - MUTYH_000096 - PubMed: Al-Tassan 2003 - rs3219497 Germline - - - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patient 550 PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln); Q531R - MUTYH_000096 None found in 1068 German CRC patients; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans PubMed: Schafmayer 2007 - rs3219497 Germline - 1068 CRC patients and 738 controls: variant not found - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c1601 PubMed: Schafmayer 2007 - - - Germany - - - - - - Astrid Out
?/. 16 c.1601G>A r.(1601g>a) p.(Arg534Gln) - Unknown - VUS g.45795027C>T g.45329355C>T 1559G>A (Arg520Gln); Q531R - MUTYH_000096 None found in 738 German controls; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans PubMed: Schafmayer 2007 - rs3219497 Germline - 1068 CRC patients and 738 controls: variant not found - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c1601 PubMed: Schafmayer 2007 - - - Germany - - - - - - Astrid Out
-/. - c.1601G>A r.(?) p.(Arg534Gln) - Unknown - benign g.45795027C>T g.45329355C>T MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1601G>A r.(?) p.(Arg534Gln) - Unknown - benign g.45795027C>T g.45329355C>T MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1601G>A r.(?) p.(Arg534Gln) - Parent #1 - NA g.45795027C>T - chr1_45795027_C_T - MUTYH_000096 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 - 5/60466 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 - 5 BRIDGES consortium
?/. - c.1601G>A r.(?) p.(Arg534Gln) - Parent #1 - NA g.45795027C>T - chr1_45795027_C_T - MUTYH_000096 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 - 13/53461 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 - 13 BRIDGES consortium
-?/. - c.1601G>A r.(?) p.(Arg534Gln) - Unknown - likely benign g.45795027C>T - MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1601G>A r.(?) p.(Arg534Gln) - Unknown - benign g.45795027C>T - MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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