Variant #0000010778 (NC_000017.11:g.7675157G>A, TP53(NM_000546.5):c.455C>T)

Individual ID 00003674, 00005146
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.7675157G>A
Reference -
DB-ID TP53_000031
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez - Instituto Donna
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     
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DNA change (cDNA)     
RNA change     
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Review status     
TP53 NM_000546.5 +/+ 5 c.455C>T r.(?) p.(Pro152Leu) Hetero CHEK2 -



Screenings


AscendingScreening ID     
Template     
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Date of test     
Type of test     
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Variants found     
Owner     
0000003997 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, DICER1, EPCAM, FANCC, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, NBN, NF1, NF2, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, VHL, XRCC2. 01-apr-2021 Multigenetic panel - 3 Marcela Lopez - Instituto Donna
0000009330 DNA SEQ-NG Genda APC ATM BAP1 BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A CHEK2 EPCAM GREM1 MITF MLH1 MSH2 MSH6 MUTYH NBN PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D SMAD4 STK11 TP53 17-Apr-2025 Multigenetic panel - 1 Luisina Bruno-Instituto Fleming

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