View genomic variant #0000008056

Individual ID 00001440
Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45332035C>T
Reference -
DB-ID MUTYH_000024
Average frequency (large NGS studies) Variant not found in online data sets
Owner Laura Vargas Roig-IMBECU




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001128425.1 ?/? 11 c.985G>A p.(Val329Met) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001694 DNA CNV;SEQ-NG Héritas Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53) 30-aug-2018 Multigenetic panel - 3 Laura Vargas Roig-IMBECU