Full data view for gene MUTYH


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

79 entries on 1 page. Showing entries 1 - 79.
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-/. - c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - DUPLICATE – to be removed - rs3219484 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Görgens 2006 - rs3219484 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 3/50 (6%) HNPCC patients (42/50 <50 years); (8.6% of 116 controls) - - Germany white - - - - 3 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Görgens 2006 - rs3219484 Unknown - 1/50 (2%) HNPCC patients (42/50 <50 years); (0% of 116 controls) - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 - - - Germany white - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219484 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_15 PubMed: Croitoru 2004 - M - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Shin 2007 - rs3219484 Unknown - 1/250 (0.4%) patients - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 - M - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Shin 2007 - rs3219484 Unknown - - - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 8% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family) M - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Shin 2007 - rs3219484 Unknown - - - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 8% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family) M - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Alhopuro 2005 - rs3219484 Unknown - 1/24 individuals (22 families). FAP: 19, AFAP: 3 - - - DNA SEQ - - cancer, colon - PubMed: Alhopuro 2005 - - - Finland - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Alhopuro 2005 - rs3219484 Unknown - 2/24 individuals (22 families); FAP: 19, AFAP: 3 - - - DNA SEQ - - cancer, colon - PubMed: Alhopuro 2005 - - - Finland - - - - - 2 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kambara 2004 - rs3219484 Unknown - 12 Sporadic CRC patients - - - DNA PCRdig, SEQ - - CRC - PubMed: Kambara 2004 - - - Australia - - - - - 12 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kambara 2004 - rs3219484 Unknown - - - - - DNA PCRdig, SEQ - - ? - PubMed: Kambara 2004 9 healthy blood donors - - Australia - - - - - 9 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kambara 2004 - rs3219484 Unknown - - - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Kambara 2004 familial CRC patient; does not meet Bethesda criteria. M - Australia - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 In N-terminal mitochondrial targeting signal (Shinmura 2001) PubMed: Shinmura 2001 - rs3219484 Unknown - - - - - DNA SSCA, SEQ - - cancer PMID11295288_2 PubMed: Shinmura 2001 among 43 US individuals with various types of carcinoma - - United States - - - - - 2 Carli Tops
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Isidro 2004 - rs3219484 Unknown - - - - - DNA SEQ - - ? PMID15366000_9 PubMed: Isidro 2004 - - - - - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2002 - rs3219484 Unknown - - - - - DNA DHPLC - - ? PMID11818965_control3 PubMed: Al-Tassan 2002 9% allele frequency in 100 controls - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2002 - rs3219484 Unknown - - - - - DNA DHPLC - - CRC PMID11818965_CRC1 PubMed: Al-Tassan 2002 allele frequency 9% in 42 individuals with CRC at 40 y or younger or one or more first degree relatives with CRC - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2002 - rs3219484 Unknown - - - - - DNA DHPLC - - ? PMID11818965_AFAP1 PubMed: Al-Tassan 2002 allele frequency 9% in 16 indiduals with 3-50 adenomas with or without carcinoma - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Olschwang 2007 - rs3219484 Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with more than 5 polyps and, or CRC in France - - - - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Küry 2007 - rs3219484 Unknown - 6/200 - - - DNA SEQ - - CRC - PubMed: Küry 2007 6% of 100 sporadic CRC patients - - France white - - - - 6 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #2 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Clinical Genetics, LUMC, Leiden, NL - rs3219484 Germline - - - - - DNA PCR leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 In N-terminal mitochondrial targeting signal (Shinmura 2001) PubMed: Shinmura 2001 - rs3219484 Unknown - - - - - DNA SSCA, SEQ - SSCA (coding, flanking) - PMID11295288_9 PubMed: Shinmura 2001 among 47 lung cancer cell lines - - - - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - MGZ, Munchen, DE - rs3219484 Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany not yet affected (her mother was diagnosed with attenuated familial polyposis coli, because of a carcinoma coli and recurrent adenomas of the tubulovilli kind). variatns also in mother - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 178/2512=7.1% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 164/1256 (13.1%) heterozygotes among Caucasian prostate cancer patients (7 homozygotes) M - United States white - - - - 164 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 178/2512=7.1% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 7/1256 (0.6%) homozygotes among Caucasian prostate cancer patients (164 heterozygotes) M - United States white - - - - 7 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #2 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 178/2512=7.1% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 7/1256 (0.6%) homozygotes among Caucasian prostate cancer patients (164 heterozygotes) M - United States white - - - - 7 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 3/286=1.0% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 3/143 (2.1%) heterozygotes among African-American prostate cancer patients (0 homozygotes) M - United States African-American - - - - 3 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 183/2496=7.3% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 173/1248 (13.9%) heterozygotes among Caucasian controls (5 homozygotes) M - United States white - - - - 173 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 183/2496=7.3% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 5/1248 (0.4%) homozygotes among Caucasian controls (173 heterozygotes) M - United States white - - - - 5 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #2 - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 183/2496=7.3% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 5/1248 (0.4%) homozygotes among Caucasian controls (173 heterozygotes) M - United States white - - - - 5 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 4/158=2.5% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 4/79 (5.1%) heterozygotes among African-American controls (0 homozygotes) M - United States African-American - - - - 4 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kairupan 2005 - rs3219484 Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? 15761860_14 PubMed: Kairupan 2005 among 120 APC mutation negative Australian polyposis patients M - Australia - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Zhou 2005 - rs3219484 Unknown - 16,1% of n=84 - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_4 PubMed: Zhou 2005 16,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 Genotyping 7 variants: IVS115G/C, V22M, Y90X, Y165C, G382D, E466X, S501F PubMed: Wynter 2005 - rs3219484 Unknown - 1/4 Australian multiple adenoma patients - - - DNA PCRdig tumor PCRdig, specific genotyping, test known variants (group) CRC 16152625_II.4 PubMed: Wynter 2005 - F - Australia - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 6% of alleles PubMed: Russell 2006 - rs3219484 Unknown - 6% of alleles - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (group) CRC 16287072_c64_patients PubMed: Russell 2006 Among 79 Swiss APC mutation negative polyposis patients - - Switzerland - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 2% of alleles PubMed: Russell 2006 - rs3219484 Unknown - 2% of alleles - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (group) ? 16287072_c64_controls PubMed: Russell 2006 Among 100 Swiss controls - - Switzerland - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Lejeune 2006 - rs3219484 Unknown - - - - - DNA SEQ - SEQ (ex1-16), screen MUTYH gene (index) CRC 16941501_c64 PubMed: Lejeune 2006 Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect - - France - - - - - 1 Carli Tops
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219484 Unknown - 7/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_64 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 - - - - 7 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219484 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_33 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Croitoru 2007 - rs3219484 Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 17219385_V22M_hom PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative - - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #2 - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Croitoru 2007 - rs3219484 Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 17219385_V22M_hom PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative - - Canada - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Croitoru 2007 - rs3219484 Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 17219385_V22M_het PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative - - Canada - - - - - 2 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219484 Unknown - 15/230 - - - DNA SEQ leukocyte - CRC - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - 1 Mette Gaustadnes
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219484 Unknown - 15/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK 7 polyps, several adenomas with dysplasia - - Denmark - - - - - 1 Mette Gaustadnes
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219484 Unknown - 15/230 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 13/115 polyposis and/or CRC patients heterozygous c.64G>A; minor allele frequency 15/230 - - Denmark - - - - - 13 Mette Gaustadnes
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - rs3219484 Unknown - - - - - DNA SEQ - screening polyposis - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - F - Sweden - - - - - 1 Kristina Lagerstedt Robinson
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - rs3219484 Unknown - - - - - DNA SEQ - screening ? - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - F - Finland - - - - - 1 Kristina Lagerstedt Robinson
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T (Val22Met) - MUTYH_000005 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - rs3219484 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece - - - - - 1 Florentia Fostira
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T (Val22Met) - MUTYH_000005 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - rs3219484 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (relative) - - - - - - - - - - - - - -
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 only variants reported, not genotypes Genetics, John Hunter Hospital, Newcastle, AU - rs3219484 Germline - frequent - - - DNA SEQ - screen MUTYH gene ? - Genetics, John Hunter Hospital, Newcastle, AU - - - Australia - - - - - 1 Rodney Scott
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 37/530 (7.0%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c64_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 37/530 (7.0%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c64_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 15/200 (7.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c64_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 15/200 (7.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c64_HOM PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 37/530 (7.0%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) - 14579148_patients_c64_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 35 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 15/200 (7.5%) - - - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) ? 14579148_controls_c64_HET PubMed: Al-Tassan 2003 Association study between 276 lung cancer patients and 106 controls - - (United Kingdom (Great Britain)) - - - - - 13 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Colebatch 2006 - rs3219484 Germline - - - - - DNA SEQ leukocyte specific genotyping, screen MUTYH gene (index) ? 17031395_control_3 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
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c64_HET PubMed: Schafmayer 2007 - - - Germany - - - - - 151 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c64_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 8 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #2 - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c64_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 8 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c64_HET PubMed: Schafmayer 2007 - - - Germany - - - - - 95 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #1 - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c64_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 4 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Parent #2 - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c64_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 4 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Görgens 2007 - rs3219484 Germline - 4/58 (6.9%) - - - DNA SEQ leukocyte screen MUTYH gene (group) cancer, head/neck 17207658_patients_c64 PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 4 (13.8%) heterozygous c.64G>A; 30 controls: 4 (13.3%) heterozygous - - Germany white - - - - 4 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Görgens 2007 - rs3219484 Germline - 4/60 (6.7%) - - - DNA SEQ leukocyte screen MUTYH gene (group) ? 17207658_controls_c64 PubMed: Görgens 2007 29 patients with head and neck squamous cell carcinomas: 4 (13.8%) heterozygous c.64G>A; 30 controls: 4 (13.3%) heterozygous - - Germany white - - - - 4 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Ashton 2005 - rs3219484 Germline - - - - - DNA SEQ leukocyte allelic discrimination, screen MUTYH gene (index) CRC - PubMed: Ashton 2005 442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A F - Australia - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Ashton 2005 - rs3219484 Germline - - - - - DNA SEQ leukocyte allelic discrimination, screen MUTYH gene (index) CRC - PubMed: Ashton 2005 442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A F - Australia - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Kanter-Smoler 2006 - rs3219484 Germline - 3/30 alleles - - - DNA SEQ - screen MUTYH gene (index) CRC PMID16616356_11 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients F - Sweden - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Kanter-Smoler 2006 - rs3219484 Germline - 3/30 alleles - - - DNA SEQ - screen MUTYH gene (index) CRC PMID16616356_12 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients F - Sweden - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - Unknown - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Kanter-Smoler 2006 - rs3219484 Germline - 3/30 alleles - - - DNA SEQ - screen MUTYH gene (index) ? PMID16616356_14 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients F - Sweden - - - - - 1 Astrid Out
?/. 2 c.64G>A r.(?) p.Val22Met - Unknown - NA g.45800156C>T g.45334484C>T 18534194_glycosylase_V22M - MUTYH_000005 In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; glycosylase activity for GO:A similar to WT PubMed: Ali 2008 - rs3219484 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.64G>A r.(?) p.Val22Met - Unknown - NA g.45800156C>T g.45334484C>T 18534194_protein_V22M - MUTYH_000005 Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed PubMed: Ali 2008 - rs3219484 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T - - MUTYH_000005 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. 2 c.64G>A r.(?) p.(Val22Met) - Unknown - benign g.45800156C>T g.45334484C>T - - MUTYH_000005 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, colon - - - - - Argentina Spain - - - - 1 Maximiliano Zeballos
-?/. - c.64G>A r.(?) p.(Val22Met) - Parent #1 - likely benign g.45800156C>T g.45334484C>T - - MUTYH_000005 149 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3219484 Germline - 149/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 149 Mohammed Faruq
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