Genomic variant #0000027187

Individual ID 00035826
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796159C>T
Published as 1476+29G>A
Reference Molecular Oncology, CRCM-UMR, Marseille, FR
DB-ID MUTYH_000279
Frequency -
Variant remarks Alamut: no major splice site change predicted
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Sylviane Olschwang




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     
MUTYH NM_001128425.1 ?/? 15i c.1518+29G>A r.(=) p.(=) - - - - -



Screenings


AscendingScreening ID     

Date     

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Variants found     

Owner     
0000024646 - DNA SEQ - - MUTYH 1 Sylviane Olschwang