All variants in the MUTYH gene


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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-?/. - c.53C>T r.(?) p.(Pro18Leu) - - likely benign g.45800167G>A g.45334495G>A MUTYH(NM_001128425.1):c.53C>T (p.P18L) - MUTYH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. 2 c.53C>T r.(?) p.Pro18Leu - - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 In N-terminal mitochondrial targeting signal (Shinmura 2001) PubMed: Shinmura 2001 - - Unknown - - - 0 - Carli Tops
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - - - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - - - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - - - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - VUS g.45800167G>A g.45334495G>A P18L - MUTYH_000024 - PubMed: Yanaru-Fujisawa 2008 - - Germline - 1/132 - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - 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 - 0 - Astrid Out
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 variants in cis PubMed: Zhang 2006 - - Germline - 10/202 - 0 - Carli Tops
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 - PubMed: Zhang 2006 - - Germline - 3/258 - 0 - Carli Tops
?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) - - VUS g.45800167G>A g.45334495G>A - - MUTYH_000024 - DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL - - Germline - - - 0 - Astrid Out
?/. 2 c.53C>T r.(?) p.Pro18Leu MTS - 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) - - - 0 - Astrid Out
?/. 2 c.53C>T r.(?) p.Pro18Leu MTS - 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) - - - 0 - Astrid Out
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