View genomic variant #0000006530

Individual ID 00001024
Chromosome 17
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.7676154G>C
Reference -
DB-ID TP53_000001 See all 33 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Silvina Sisterna-Hospital Privado




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
TP53 NM_000546.5 -/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA2 -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001229 DNA CNV;SEQ-NG IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 26-sep-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 27 Silvina Sisterna-Hospital Privado