Full data view for gene MUTYH


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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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-?/. - c.53C>T r.(?) p.(Pro18Leu) - Unknown - likely benign g.45800167G>A g.45334495G>A MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L) - MUTYH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.53C>T r.(?) p.Pro18Leu - Unknown - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Unknown - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 In N-terminal mitochondrial targeting signal (Shinmura 2001) PubMed: Shinmura 2001 - - Unknown - - - - - DNA SSCA, SEQ - - - PMID11295288_4 PubMed: Shinmura 2001 among cancerous tissues of 55 unrelated lung cancer patients - - Japan - - - - - 1 Carli Tops
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given PubMed: Kim 2007 - - Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_P18L_G25D_het PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given PubMed: Kim 2007 - - Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_P18L_G25D_hom PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #2 - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given PubMed: Kim 2007 - - Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_P18L_G25D_hom PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 P18L and G25D on same allele (cloning-sequencing analysis) PubMed: Kim 2007 - - Germline - 1/124 - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) cancer, rectal - PubMed: Kim 2007 T2N0; Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants M - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 P18L and G25D on same allele (cloning-sequencing analysis) PubMed: Kim 2007 - - Germline - 3/192 - - - DNA SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? - PubMed: Kim 2007 heterozygous in 3/96 normal Korean control individuals. - - Korea, South (Republic) - - - - - 3 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Unknown - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 - PubMed: Yanaru-Fujisawa 2008 - - Germline - 1/132 - - - 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 M - Japan - - - - - 1 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS PubMed: Chen 2008 - - Germline - 6/276 alleles - - - DNA DHPLC, SEQ - ex2, test known variants (group) CRC - PubMed: Chen 2008 Among 138 sporadic Chinese CRC patients; only exon 2 analyzed - - China Jiangsu - - - - 6 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS PubMed: Chen 2008 - - Germline - 3/686 alleles - - - DNA DHPLC, SEQ - ex2, test known variants (group) ? - PubMed: Chen 2008 Among 343 Chinese controls; only exon 2 analyzed - - China Jiangsu - - - - 3 Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 variants in cis PubMed: Zhang 2006 - - Germline - 10/202 - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (group) CRC 16929514- cases PubMed: Zhang 2006 - - - China Jiangsu Chinese - - - - 10 Carli Tops
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 - PubMed: Zhang 2006 - - Germline - 3/258 - - - DNA DHPLC, SEQ leukocyte test known variant (group) ? 16929514 - controls PubMed: Zhang 2006 negative controls - - China Jiangsu Chinese - - - - 3 Carli Tops
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - Parent #1 - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 - DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL - - Germline - - - - - DNA SEQ - screen MUTYH gene (index) CRC - DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL - M - Netherlands - - - - - 1 Astrid Out
?/. 2 c.53C>T r.(?) p.Pro18Leu MTS Unknown - NA g.45800167G>A g.45334495G>A 18811933_test_53 - MUTYH_000024 In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria PubMed: Chen 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.53C>T r.(?) p.Pro18Leu MTS Unknown - NA g.45800167G>A g.45334495G>A 18811933_test_53_74 - MUTYH_000024 In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria PubMed: Chen 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53C>T r.(?) p.(Pro18Leu) - Unknown - benign g.45800167G>A - MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L) - MUTYH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53C>T r.(?) p.(Pro18Leu) - Unknown - likely benign g.45800167G>A - MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L) - MUTYH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53C>T r.(?) p.(Pro18Leu) - Unknown - benign g.45800167G>A - MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L) - MUTYH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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