Full data view for gene MUTYH


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

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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-/. - c.462+35A>G r.(?) p.(=) - Unknown - benign g.45798555T>C g.45332883T>C - - MUTYH_000010 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. 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.462+35A>G r.(?) p.(=) - Unknown - benign g.45798555T>C g.45332883T>C - - MUTYH_000010 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. 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.462+35A>G r.(?) p.(=) - Unknown - benign g.45798555T>C g.45332883T>C - - MUTYH_000010 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. 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.462+35A>G r.(?) p.(=) - Both (homozygous) - benign g.45798555T>C g.45332883T>C - - MUTYH_000010 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. 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.462+35A>G r.(?) p.(=) - Both (homozygous) - benign g.45798555T>C g.45332883T>C - - MUTYH_000010 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. 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.504+35A>G r.(=) p.(=) - Unknown - benign g.45798555T>C g.45332883T>C - - MUTYH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 6/50 (12%) HNPCC patients (42/50 <50 years); (11,2% of 116 controls) - - Germany white - - - - 6 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #1 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA SEQ - - ? - PubMed: Görgens 2006 1,7% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - - Germany white - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Shinmura 2001 - rs3219487 Unknown - - - - - DNA SSCA, SEQ - - - PMID11295288_7 PubMed: Shinmura 2001 among cancerous tissues of 55 unrelated lungcancer patients - - Japan - - - - - 10 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Knudsen 2003 - rs3219487 Unknown - - - - - DNA SEQ - - ? PMID14574166_3 PubMed: Knudsen 2003 - - - - - - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA SEQ - - ? PMID15366000_10 PubMed: Isidro 2004 - - - - - - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Küry 2007 - rs3219487 Unknown - - - - - DNA SEQ - - CRC - PubMed: Küry 2007 Among 100 sporadic CRC patients, No frequency reported. - - France white - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #1 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Küry 2007 - rs3219487 Unknown - 3/200 - - - DNA SEQ - - CRC - PubMed: Küry 2007 3 of 100 sporadic CRC patients - - France white - - - - 3 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #2 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Küry 2007 - rs3219487 Unknown - 3/200 - - - DNA SEQ - - CRC - PubMed: Küry 2007 3 of 100 sporadic CRC patients - - France white - - - - 3 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 140 (20.4%) among 685 CRC patients; Haplotype 10.7% - - Japan - - - - - 140 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 143 (18.4%) among 778 control subjects; Haplotype 9.8% - - Japan - - - - - 143 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Both (homozygous) - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 6 (0.9%) among 685 CRC patients. Haplotype 10.7% - - Japan - - - - - 6 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Both (homozygous) - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 7 (0.9%) among 778 control subjects; Haplotype 9.8% - - Japan - - - - - 7 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - 0.07 (?); n=225 - - - DNA SEQ - - cancer, endometrial PMID17956577_8 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
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #2 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - 18/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_504+35_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
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #1 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - 18/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_504+35_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
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Unknown - 18/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_504+35_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
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Goto 2008 - rs3219487 Unknown - 7/46 alleles - - - DNA SEQ FFPE, non-cancerous gastric mucosa ex 1-16 screen MUTYH gene (group) cancer, gastric - PubMed: Goto 2008 Among 23 Japanese gastric cancer patients - - Japan - - - - - 7 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 52/530 (9.8%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c504+35_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 52/530 (9.8%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c504+35_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 23/200 (11.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c504+35_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 2 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 23/200 (11.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c504+35_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 2 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 52/530 (9.8%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c504+35_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 50 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 23/200 (11.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c504+35_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 19 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Schafmayer 2007 - rs3219487 Germline - 1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c504+35_HET PubMed: Schafmayer 2007 - - - Germany - - - - - 173 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #1 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Schafmayer 2007 - rs3219487 Germline - 1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c504+35_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 8 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #2 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Schafmayer 2007 - rs3219487 Germline - 1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c504+35_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 8 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Schafmayer 2007 - rs3219487 Germline - 1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c504+35_HET PubMed: Schafmayer 2007 - - - Germany - - - - - 101 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #1 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Schafmayer 2007 - rs3219487 Germline - 1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c504+35_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 5 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #2 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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: Schafmayer 2007 - rs3219487 Germline - 1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c504+35_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 5 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 3/58 (5.2%) - - - DNA SEQ leukocyte screen MUTYH gene (group) cancer, head/neck 17207658_patients_c504+35_HET 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; 1 (3.3%) omozygous - - Germany white - - - - 3 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 7/60 (11.7%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c504+35_HET 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; 1 (3.3%) omozygous - - Germany white - - - - 5 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #1 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 7/60 (11.7%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c504+35_HOM 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; 1 (3.3%) omozygous - - Germany white - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Parent #2 - VUS g.45798555C>T - 462+35G>A - MUTYH_000010 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 - rs3219487 Germline - 7/60 (11.7%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c504+35_HOM 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; 1 (3.3%) omozygous - - Germany white - - - - 1 Astrid Out
?/. 6i c.504+35G>A r.(=) p.(=) - Unknown - VUS g.45798555C>T - IVS6+35G>A - MUTYH_000010 cases MSS-HNPCC like indexes vs controls cases: 12/76 (15.8%) controls 23/164 (14%) 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: Garre 2011 - rs3219487 Unknown - 15.8%-14% - - - DNA SEQ leukocyte - CRC - PubMed: Garre 2011 cases MSS-HNPCC like indexes vs controls - - Spain - - - - - 1 Carli Tops
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