Genomic variant #0000025812

Individual ID 00034975
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796229C>A
Published as 1435G>T (Val479Phe)
Reference Küry 2007
DB-ID MUTYH_000143 See all 7 reported entries
Frequency 0,1% (1/1023) sporadic CRC patients
Variant remarks Not found in 1022 sporadic CRC patients from the same region.
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
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 +?/? 15 c.1477G>T r.(1477g>u); r.(spl?) p.(Val493Phe) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000023795 - DNA TaqMan;SEQ - - MUTYH 1 Astrid Out