View genomic variant #0000006606

Individual ID 00001057
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331515_45331516dup
Reference -
DB-ID MUTYH_000022
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jesica Ramirez-Hospital Central de Mendoza




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001128425.1 +/+ 13 c.1227_1228dup p.(Glu410Glyfs*43) Hetero MUTYH r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001263 DNA CNV;SEQ-NG Color-Genda Hereditary Cancer Risk Test (30 genes) 21-mar-2019 Multigenetic panel - 2 Jesica Ramirez-Hospital Central de Mendoza