All variants in the MUTYH gene


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

14 entries on 1 page. Showing entries 1 - 14.
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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     
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. DUPLICATE – to be removed - rs3219468 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5G>C; 156+5G>C - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. MGZ, Munchen, DE - rs3219468 Unknown - - - 0 - Elke Holinski-Feder
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - 35+325G>C - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Barnetson 2007 - rs3219468 Unknown - 0.01 (?); n=225 - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Plotz 2012 - rs3219468 Germline - 1/54 controls - 0 - Guido Plotz
?/. 1i c.36+325G>C r.? p.? - - VUS g.45805566C>G - - - MUTYH_000004 The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Plotz 2012 - rs3219468 Germline - 1/54 controls - 0 - Guido Plotz
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. NCBI reference sequence NC_000001.10 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C r.spl p.? - - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. NCBI reference sequence NT_032977.9 - rs3219468 Unknown - - - 0 - Astrid Out
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