Genomic variant #0000026967

Individual ID 00035705
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796229C>A
Published as 1435G>T (Val479Phe); V479F
Reference Aretz 2006
DB-ID MUTYH_000143 See all 7 reported entries
Frequency 1/658
Variant remarks Alamut: located at first nucleotide of exon 15; makes acceptor splice site of intron 14 slightly weaker
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Stefan Aretz




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 ?/? 15 c.1477G>T r.(1477g>u); r.(spl?) p.(Val493Phe) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024525 - DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 2 Stefan Aretz