FBN1 c.7240C>T ;(p.R2414*)

Variant ID: 15-48718026-G-A

NM_000138.4(FBN1):c.7240C>T;(p.R2414*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12

Variant appearance in text: FBN1: Arg2414Ter; rs112550005
PubMed Link: 37042257
Variant Present in the following documents:
  • JAH3-12-e028625-s001.pdf
  • JAH3-12-e028625.pdf
View BVdb publication page



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: FBN1: 7240C>T; Arg2414Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: FBN1: R2414*
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics
Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S
Publication Date: 2021-12-16

Variant appearance in text: FBN1: 7240C>T; Arg2414*; rs112550005
PubMed Link: 34916231
Variant Present in the following documents:
  • jmedgenet-2021-108186supp001.pdf
View BVdb publication page



Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology
Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y
Publication Date: 2022-12

Variant appearance in text: FBN1: 7240C>T
PubMed Link: 34281902
Variant Present in the following documents:
  • bjophthalmol-2021-319084supp003.pdf
  • bjophthalmol-2021-319084supp004.pdf
View BVdb publication page



Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.

Frontiers In Genetics
Abuduxikuer, Kuerbanjiang K; Wang, Jian-She JS
Publication Date: 2021

Variant appearance in text: FBN1: 7240C>T; Arg2414Ter
PubMed Link: 34122512
Variant Present in the following documents:
  • Main text
  • fgene-12-658786.pdf
View BVdb publication page



Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.

Npj Breast Cancer
Luo, Rui R; Chong, Weelic W; Wei, Qiang Q; Zhang, Zhenchao Z; Wang, Chun C; Ye, Zhong Z; Abu-Khalaf, Maysa M MM; Silver, Daniel P DP; Stapp, Robert T RT; Jiang, Wei W; Myers, Ronald E RE; Li, Bingshan B; Cristofanilli, Massimo M; Yang, Hushan H
Publication Date: 2021-06-01

Variant appearance in text: FBN1: R2414X
PubMed Link: 34075047
Variant Present in the following documents:
  • 41523_2021_278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Orphanet Journal Of Rare Diseases
Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K
Publication Date: 2020-10-15

Variant appearance in text: FBN1: 7240C>T
PubMed Link: 33059708
Variant Present in the following documents:
  • 13023_2020_1569_MOESM1_ESM.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: FBN1: R2414*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Plos One
Gentilini, Davide D; Oliveri, Antonino A; Fazia, Teresa T; Pini, Alessandro A; Marelli, Susan S; Bernardinelli, Luisa L; Di Blasio, Anna Maria AM
Publication Date: 2019

Variant appearance in text: FBN1: R2414X
PubMed Link: 31536524
Variant Present in the following documents:
  • pone.0222506.s004.xlsx, sheet 1
View BVdb publication page



Soluble EMMPRIN levels discriminate aortic ectasia in Marfan syndrome patients.

Theranostics
Rurali, Erica E; Perrucci, Gianluca L GL; Gaetano, Raffaella R; Pini, Alessandro A; Moschetta, Donato D; Gentilini, Davide D; Nigro, Patrizia P; Pompilio, Giulio G
Publication Date: 2019

Variant appearance in text: FBN1: 7240C>T
PubMed Link: 31149040
Variant Present in the following documents:
  • thnov09p2224s1.pdf
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: 7240C>T; R2414*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics
Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U
Publication Date: 2002-08

Variant appearance in text: FBN1: R2414X
PubMed Link: 12068374
Variant Present in the following documents:
  • Main text
View BVdb publication page