Full data view for gene MUTYH


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

4 entries on 1 page. Showing entries 1 - 4.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

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Re-site     

VIP     

Methylation     

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Disease     

ID_report     

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VIP     

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Panel size     

Owner     
?/. 1i c.36+1G>A r.spl p.0? - Unknown - VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.36+1G>A r.spl p.0? - Unknown - pathogenic g.45805890C>T g.45340218C>T - - MUTYH_000224 Alamut: affects donor splice site intron 1; skip exon 1 very likely; first ATG of alpha transcript in exon 1; two alternative ATG codons in exon 2 (beta + gamma transcripts) and 4 (beta4 + gamma4); effect on alpha transript difficult to predict. Redeker (unpublished); AMC, Amsterdam, NL - - Unknown - - - 0 - DNA SEQ - - polyposis - Redeker (unpublished); AMC, Amsterdam, NL - M - Netherlands - - 0 - - 1 Bert Redeker
?/. 1i c.36+1G>A r.spl p.0? - Unknown - VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 MSH2: c.1729T>C PubMed: Niessen et al. 2006 - - Germline - - - 0 - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC 16408224_2 PubMed: Niessen 2006 40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%), - - Netherlands - - 0 - - 1 Astrid Out
?/. - c.36+1G>A r.spl? p.? - Parent #1 - NA g.45805890C>T - chr1_45805890_C_T - MUTYH_000224 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
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