View genomic variant #0000002560

Individual ID 00000299
Chromosome 17
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.7674944C>T
Reference -
DB-ID TP53_000004
Average frequency (large NGS studies) Variant not found in online data sets
Owner Vanesa Lotersztein-Consultorio AGO Progenitest




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
TP53 NM_000546.5 ?/? 6 c.587G>A r.(?) p.(Arg196Gln) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000348 DNA CNV;SEQ-NG Color-Genesia (Progenitest) Hereditary Cancer Risk Test (30 genes) 24-oct-2017 Multigenetic panel - 3 Vanesa Lotersztein-Consultorio AGO Progenitest