Full data view for gene MUTYH


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

18 entries on 1 page. Showing entries 1 - 18.
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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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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.157+30A>G r.(=) p.(=) - Unknown - benign g.45800033T>C g.45334361T>C MUTYH(NM_001128425.1):c.157+30A>G - MUTYH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.157+30A>G r.(=) p.(=) - Unknown - benign g.45800033T>C g.45334361T>C MUTYH(NM_001128425.1):c.157+30A>G - MUTYH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.157+30A>G r.(?) p.(=) - Parent #1 - benign g.45800033T>C g.45334361T>C - - MUTYH_000006 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - DUPLICATE – to be removed - rs3219485 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2006 - rs3219485 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 2/50 (4%) HNPCC patients (42/50 <50 years); (3.4% of 116 controls) - - Germany white - - - - 2 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Parent #1 - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2006 - rs3219485 Unknown - - - - - DNA SEQ - - ? - PubMed: Görgens 2006 1,7% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - - Germany white - - - - 1 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Parent #1 - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - Clinical Genetics, LUMC, Leiden, NL - rs3219485 Germline - - - - - DNA SEQ leukocyte - - - - - - - - - - - - - - -
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Küry 2007 - rs3219485 Unknown - - - - - DNA SEQ - - CRC - PubMed: Küry 2007 Among 100 sporadic CRC patients, No frequency reported. - - France white - - - - 1 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Parent #1 - VUS g.45800033T>C g.45334361T>C 156+30A>G - MUTYH_000006 - MGZ, Munchen, DE - rs3219485 Unknown - >0.01 - - - DNA SEQ - - ? - MGZ, Munchen, Germany diverticulosis, suspicious of Lynch-Syndrome, carcinogenic polyps of the rectum - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C IVS2+30A>G - MUTYH_000006 www.fruitfly.org: no splicing effect PubMed: Zhou 2005 - rs3219485 Unknown - 9,2% of n=84 - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_2 PubMed: Zhou 2005 9,2% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - - - - 1 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected PubMed: Peterlongo 2006 - rs3219485 Unknown - 3/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_157+30 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 - - - - 3 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Al-Tassan 2003 - rs3219485 Germline - 23/540 (4.3%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c157+30_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 23 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Al-Tassan 2003 - rs3219485 Germline - 10/206 (4.9%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c157+30_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 10 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 1/58 (1.7%) - - - DNA SEQ leukocyte screen MUTYH gene (group) cancer, head/neck 17207658_patients_c157+30_HET PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous - - Germany white - - - - 1 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Unknown - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 3/60 (5.0%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c157+30_HET PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous - - Germany white - - - - 1 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Parent #1 - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 3/60 (5.0%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c157+30_HOM PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous - - Germany white - - - - 1 Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - Parent #2 - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 3/60 (5.0%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c157+30_HOM PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous - - Germany white - - - - 1 Astrid Out
-/. - c.157+30A>G r.(=) p.(=) - Parent #1 - benign g.45800033T>C g.45334361T>C - - MUTYH_000006 56 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3219485 Germline - 56/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 56 Mohammed Faruq
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