All transcript variants in gene MUTYH


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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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+267C>T VUS r.(=) p.(=) - g.45805624G>A - - - MUTYH_000200 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+267C>T VUS r.(=) p.(=) - g.45805624G>A - - - MUTYH_000200 Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1 PubMed: Goto 2008 - - Unknown - 1/46 alleles - 0 - Astrid Out
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