F2 c.535C>T ;(p.Q179*)

Variant ID: 11-46745044-C-T

NM_000506.3(F2):c.535C>T;(p.Q179*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Human Molecular Genetics
Zerdoumi, Yasmine Y; Lanos, Raphaël R; Raad, Sabine S; Flaman, Jean-Michel JM; Bougeard, Gaëlle G; Frebourg, Thierry T; Tournier, Isabelle I
Publication Date: 2017-07-15

Variant appearance in text: F2: 535C>T
PubMed Link: 28369373
Variant Present in the following documents:
  • Main text
  • ddx106.pdf
View BVdb publication page