Genomic variant #0000026785

Individual ID 00035598
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795080C>T
Published as 1506G>A (Pro502Pro)
Reference Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK
DB-ID MUTYH_000144 See all 4 reported entries
Frequency -
Variant remarks -
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Rikke Veggerby Grønlund




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 ?/? 16 c.1548G>A r.(1548g>a) p.(Pro516Pro) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024418 - DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 1 Rikke Veggerby Grønlund