PDGFB c.433C>T ;(p.Q145*)

Variant ID: 22-39627650-G-A

NM_002608.2(PDGFB):c.433C>T;(p.Q145*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PDGFB: 433C>T; Gln145Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical and radiological diversity in genetically confirmed primary familial brain calcification.

Scientific Reports
Koyama, Shingo S; Sato, Hidenori H; Kobayashi, Ryota R; Kawakatsu, Shinobu S; Kurimura, Masayuki M; Wada, Manabu M; Kawanami, Toru T; Kato, Takeo T
Publication Date: 2017-09-21

Variant appearance in text: PDGFB: Gln145*
PubMed Link: 28935882
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11595.pdf
View BVdb publication page



Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.

Neurology. Genetics
Paucar, Martin M; Almqvist, Håkan H; Saeed, Ahmed A; Bergendal, Gösta G; Ygge, Jan J; Holmin, Staffan S; Björkhem, Ingemar I; Svenningsson, Per P
Publication Date: 2016-08

Variant appearance in text: PDGFB: 433C>T
PubMed Link: 27433546
Variant Present in the following documents:
  • supp_2.4.e84_Tables_e-1-e-11.pdf
View BVdb publication page



Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Plos One
Vanlandewijck, Michael M; Lebouvier, Thibaud T; Andaloussi Mäe, Maarja M; Nahar, Khayrun K; Hornemann, Simone S; Kenkel, David D; Cunha, Sara I SI; Lennartsson, Johan J; Boss, Andreas A; Heldin, Carl-Henrik CH; Keller, Annika A; Betsholtz, Christer C
Publication Date: 2015

Variant appearance in text: PDGFB: 433C>T; Q145*
PubMed Link: 26599395
Variant Present in the following documents:
  • Main text
  • pone.0143407.pdf
View BVdb publication page



A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

European Journal Of Human Genetics : Ejhg
Nicolas, Gaël G; Jacquin, Agnès A; Thauvin-Robinet, Christel C; Rovelet-Lecrux, Anne A; Rouaud, Olivier O; Pottier, Cyril C; Aubriot-Lorton, Marie-Hélène MH; Rousseau, Stéphane S; Wallon, David D; Duvillard, Christian C; Béjot, Yannick Y; Frébourg, Thierry T; Giroud, Maurice M; Campion, Dominique D; Hannequin, Didier D
Publication Date: 2014-10

Variant appearance in text: PDGFB: 433C>T; Gln145*
PubMed Link: 24518837
Variant Present in the following documents:
  • Main text
View BVdb publication page