View genomic variant #0000007285

Individual ID 00001282
Chromosome 17
Allele Unknown
Affects function (reported) Not classified
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) Not specified no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001521 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) 10-jan-2020 Multigenetic panel - 39 Silvina Sisterna-Hospital Privado