View genomic variant #0000002881

Individual ID 00000345
Chromosome 17
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.7674220C>T
Reference -
DB-ID TP53_000005
Average frequency (large NGS studies) Variant not found in online data sets
Owner Claudia Martin-Hospital Privado Centro Médico de Córdoba




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
TP53 NM_000546.5 +/+ 7 c.743G>A r.(?) p.(Arg248Gln) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000394 DNA SEQ-NG Blueprint Genetics-Genda Hereditary Pediatric Cancer Panel Plus (52 Genes) 9-oct-2017 - - 1 Claudia Martin-Hospital Privado Centro Médico de Córdoba