FBN1 c.1027G>C ;(p.G343R)

Variant ID: 15-48812976-C-G

NM_000138.4(FBN1):c.1027G>C;(p.G343R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Human Mutation
Kasak, Laura L; Hunter, Jesse M JM; Udani, Rupa R; Bakolitsa, Constantina C; Hu, Zhiqiang Z; Adhikari, Aashish N AN; Babbi, Giulia G; Casadio, Rita R; Gough, Julian J; Guerrero, Rafael F RF; Jiang, Yuxiang Y; Joseph, Thomas T; Katsonis, Panagiotis P; Kotte, Sujatha S; Kundu, Kunal K; Lichtarge, Olivier O; Martelli, Pier Luigi PL; Mooney, Sean D SD; Moult, John J; Pal, Lipika R LR; Poitras, Jennifer J; Radivojac, Predrag P; Rao, Aditya A; Sivadasan, Naveen N; Sunderam, Uma U; Saipradeep, V G VG; Yin, Yizhou Y; Zaucha, Jan J; Brenner, Steven E SE; Meyn, M Stephen MS
Publication Date: 2019-09

Variant appearance in text: FBN1: Gly343Arg
PubMed Link: 31322791
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: FBN1: 1027G>C; G343R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Bmc Medical Genetics
Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B
Publication Date: 2015-12-18

Variant appearance in text: FBN1: Gly343Arg
PubMed Link: 26684006
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_260.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: FBN1: G343R
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page