Genomic variant #0000027047

Individual ID 00035745
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796186A>G
Published as 1476+2T>C; 1509+2T>C (Val479_Met492del)
Reference Aretz 2006; Vogt 2009
DB-ID MUTYH_000198 See all 2 reported entries
Frequency 1/658
Variant remarks Alamut: skip exon 15 very likely
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 ?/? 15i c.1518+2T>C r.(1477_1518del) p.(Val493_Met506del) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024565 - DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 2 Stefan Aretz