Genomic variant #0000027186

Individual ID 00035825
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796162G>A
Published as 1476+26C>T
Reference Molecular Oncology, CRCM-UMR, Marseille, FR
DB-ID MUTYH_000278
Frequency -
Variant remarks Alamut: make a possible strong splice acceptor site at c.1518+39 in intron 15 slightly stronger
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+26C>T r.(=); r.(spl?) p.(=) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024645 - DNA SEQ - - MUTYH 1 Sylviane Olschwang