View genomic variant #0000008076

Individual ID 00001446
Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331485G>C
Reference -
DB-ID MUTYH_000025
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 ?/? 13 c.1258C>G p.(Leu420Val) Hetero BRCA1 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001701 DNA CNV;SEQ-NG Héritas Panel (ATM, BRCA1, BRCA2, BARD1, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50D, RAD51C, RAD51D, RECQL4, RINT1, SMARCA4, STK11, TP53, XRCC2) 1-nov-2019 Multigenetic panel - 2 Laura Vargas Roig-IMBECU