Full data view for gene MUTYH


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

11 entries on 1 page. Showing entries 1 - 11.
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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     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Owner     
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) - Unknown - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del; 504 19_31del13 - MUTYH_000091 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) - Parent #1 - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del; IVS6+19-31del13 - MUTYH_000091 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_10 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) - Parent #2 - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del; IVS6+19-31del13 - MUTYH_000091 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_10 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) - Maternal (confirmed) - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del; 504+19_504+31del13 - MUTYH_000091 aberrant splicing Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ leukocyte - cancer, colon - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece Greek - - - - 1 Florentia Fostira
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) pseudo-HhH motif Parent #1 - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del13 - MUTYH_000091 exon 6 skipping Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ leukocyte screen MUTYH gene (index) CRC - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece Greek - - - - 1 Florentia Fostira
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) - Unknown - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del13 - MUTYH_000091 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (relative) - - - - - - - - - - - - - -
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) pseudo-HhH motif Parent #1 - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_504+31del13 - MUTYH_000091 exon 6 skipping Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ leukocyte screen MUTYH gene (index) CRC - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece - - - - - 1 Florentia Fostira
+/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) pseudo-HhH motif Parent #2 - pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_504+31del13 - MUTYH_000091 exon 6 skipping Molecular Diagnostics, NSCR Demokritos, Athens, GR - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ leukocyte screen MUTYH gene (index) CRC - Molecular Diagnostics, NSCR Demokritos, Athens, GR - M - Greece - - - - - 1 Florentia Fostira
+?/. 6i c.504+19_504+31del r.[=, 463_504del] p.([=, Lys155_Glu168del]) - Unknown - likely pathogenic g.45798561_45798573del g.45332889_45332901del 462+19_462+31del; 504 19_31del13 - MUTYH_000091 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 6i c.504+19_504+31del r.(=) p.(=) - Paternal (confirmed) - pathogenic g.45798561_45798573del g.45332889_45332901del 504+19_504+31del13 - MUTYH_000091 - Greece: Athens - - Germline - - - - - DNA SEQ leukocyte screen index patient polyposis - Greece: Athens Dis Colon Rectum. 2010 Aug;53(8):1197-201. doi: 10.1007/DCR.0b013e3181dcf0c1. F - Greece - - - - - 1 Florentia Fostira
+/. - c.504+19_504+31del r.spl p.? - Unknown ACMG pathogenic (recessive) g.45798561_45798573del g.45332889_45332901del - - MUTYH_000091 - - 406825 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_04 - - F ? Brazil - - - - - 1 Giovana Torrezan
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