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