Genomic variant #0000027491

Individual ID 00036054
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45794768_45799052delinsTA
Published as -
Reference Torrezan et al.,2011
DB-ID MUTYH_000323 See all 2 reported entries
Frequency -
Variant remarks -
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Giovana Torrezan




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 +?/? 3i_16_ c.348+33_*64+146del4285insTA r.? p.? - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024874 - DNA SEQ leukocyte screen MUTYH gene MUTYH 1 Giovana Torrezan