Genomic variant #0000027355

Individual ID 00035950
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795027C>T
Published as 1559G>A (Arg520Gln); Q531R
Reference Schafmayer 2007
DB-ID MUTYH_000096 See all 7 reported entries
Frequency 1068 CRC patients and 738 controls: variant not found
Variant remarks None found in 738 German controls; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) 0.01238 View details
Owner Astrid Out




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.1601G>A r.(1601g>a) p.(Arg534Gln) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024770 - DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 1 Astrid Out