TP53 c.920_921delinsAC ;(p.A307D)

Variant ID: 17-7576925-TG-GT

NM_000546.5(TP53):c.920_921delinsAC;(p.A307D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

Genetics And Molecular Biology
Alves, Leandro Ucela LU; Pardono, Eliete E; Otto, Paulo A PA; Mingroni Netto, Regina CĂ©lia RC
Publication Date: 2015-03

Variant appearance in text: p53: Ala307Asp
PubMed Link: 25983622
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-38-1-37.pdf
View BVdb publication page