Variant #0000009542 (NC_000017.11:g.7676154G>C, TP53(NM_000546.6):c.215C>G)

Individual ID 00002242
Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.7676154G>C
Reference -
DB-ID TP53_000001 See all 49 reported entries
dbSNP ID -
Variant remarks Variante involucrada en respuesta a drogas (2-8)
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
TP53 NM_000546.6 -?/-? 4 c.215C>G r.(215c>g) p.(Pro72Arg) Homo no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000002535 DNA SEQ-NG Biogenotec Panel (29 genes) PALB2, STK11, DICER1, TP53, NBN, RECQL4, PMS2, ATM, SMARC4, BARD1, FANCM, MUTYH, PTEN, EPCAM, RAD51D, BRCA2, RAD50, RAD51C, CDH1, CHEK2, NF1, MSH6, BRCA1, MSH2, BRIP1, FANCC, MLH1, XRCC2, MRE11 23-11-20 Multigenetic panel - 5 Laura Vargas Roig-IMBECU

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