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TP53 c.549A>G ;(p.S183=)
Variant ID: 17-7578381-T-C
NM_000546.5(
TP53
):c.549A>G;(p.S183=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.
Cancers
Azzollini, Jacopo J; Schiavello, Elisabetta E; Buttarelli, Francesca Romana FR; Clerici, Carlo Alfredo CA; Tizzoni, Laura L; Vecchi, Giovanna De G; Capra, Fabio F; Pisati, Federica F; Biassoni, Veronica V; Runza, Letterio L; Carrabba, Giorgio G; Giangaspero, Felice F; Massimino, Maura M; Pensotti, Valeria V; Manoukian, Siranoush S
Publication Date: 2020-09-03
Variant appearance in text: TP53: Ser183=
PubMed Link:
32899294
Variant Present in the following documents:
Main text
cancers-12-02503.pdf
View BVdb publication page
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019
Variant appearance in text: TP53: 549A>G
PubMed Link:
30794603
Variant Present in the following documents:
pone.0212370.s008.xlsx, sheet 1
View BVdb publication page
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017
Variant appearance in text: TP53: S183S
PubMed Link:
29267365
Variant Present in the following documents:
pone.0189881.s008.xlsx, sheet 1
View BVdb publication page