View genomic variant #0000003316

Individual ID 00000419
Chromosome 17
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.7676261C>T
Reference -
DB-ID TP53_000007
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gonzalo Tabares-CEMA




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
TP53 NM_000546.5 -/-? 4 c.108G>A r.(=) p.(=) Hetero MLH1 -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000473 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53 2-aug-2017 Multigenetic panel - 10 Gonzalo Tabares-CEMA