View genomic variant #0000003019

Individual ID 00000374
Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331467G>A
Reference -
DB-ID MUTYH_000012
Average frequency (large NGS studies) Variant not found in online data sets
Owner Alejandra Mampel-Hospital Universitario de Mendoza




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001048171.1 ?/? 13 c.1234C>T p.(Arg412Cys) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000427 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4 29-nov-2017 - - 4 Alejandra Mampel-Hospital Universitario de Mendoza