Genomic variant #0000026598

Individual ID 00035480
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796257C>T
Published as 1435-28G>A
Reference Laboratoire d oncogenetique, APHP-GHPS, Paris, FR
DB-ID MUTYH_000080 See all 2 reported entries
Frequency -
Variant remarks Alamut: no major splice site change predicted
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) 0.00077 View details
Owner Chrystelle Colas




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 ?/? 14i c.1477-28G>A r.(=) p.(=) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024300 - DNA SEQ leukocyte - MUTYH 2 Chrystelle Colas