FBN1 c.1948C>T ;(p.R650C)

Variant ID: 15-48797234-G-A

NM_000138.4(FBN1):c.1948C>T;(p.R650C)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.

Indian Journal Of Ophthalmology
Sahu, Animesh A; Kaur, Savleen S; Sukhija, Jaspreet J; Srivastava, Priyanka P; Kaur, Anupriya A
Publication Date: 2023-03

Variant appearance in text: FBN1: 1948C>T
PubMed Link: 36872713
Variant Present in the following documents:
  • Main text
  • IJO-71-935.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: 1948C>T; Arg650Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: FBN1: 1948C>T; R650C; rs193922185
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
  • iovs-64-2-5_s004.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: FBN1: R650C
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Meester, Josephina A N JAN; Peeters, Silke S; Van Den Heuvel, Lotte L; Vandeweyer, Geert G; Fransen, Erik E; Cappella, Elizabeth E; Dietz, Harry C HC; Forbus, Geoffrey G; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Hoskoppal, Arvind A; Landstrom, Andrew P AP; Lee, Teresa T; Mital, Seema S; Morris, Shaine S; Olson, Aaron K AK; Renard, Marjolijn M; Roden, Dan M DM; Singh, Michael N MN; Selamet Tierney, Elif Seda ES; Tretter, Justin T JT; Van Driest, Sara L SL; Willing, Marcia M; Verstraeten, Aline A; Van Laer, Lut L; Lacro, Ronald V RV; Loeys, Bart L BL
Publication Date: 2022-05

Variant appearance in text: FBN1: 1948C>T; Arg650Cys
PubMed Link: 35058154
Variant Present in the following documents:
  • NIHMS1850106-supplement-Supplemental_Table_1a.xlsx, sheet 1
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: 1948C>T; Arg650Cys
PubMed Link: 34281902
Variant Present in the following documents:
  • bjophthalmol-2021-319084supp003.pdf
  • bjophthalmol-2021-319084supp004.pdf
View BVdb publication page



Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.

The British Journal Of Ophthalmology
Yang, Yuan Y; Zhou, Ya-Li YL; Yao, Teng-Teng TT; Pan, Hui H; Gu, Ping P; Wang, Zhao-Yang ZY
Publication Date: 2021-03

Variant appearance in text: FBN1: R650C
PubMed Link: 32404357
Variant Present in the following documents:
  • bjophthalmol-2019-315265.pdf
View BVdb publication page



Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology
Singh, Mahavir M; Tyagi, Suresh C SC
Publication Date: 2018

Variant appearance in text: FBN1: 1948C>T; Arg650Cys
PubMed Link: 29376001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Imaging, Endoscopic and Genetic Assessment of Marfan Syndrome Presenting with Sigmoid Volvulus: A Review.

Cureus
Inayat, Faisal F; Hurairah, Abu A; Shaikh, Faiq F
Publication Date: 2016-05-21

Variant appearance in text: FBN1: 1948C>T; Arg650Cys
PubMed Link: 27382527
Variant Present in the following documents:
  • cureus-0008-000000000619.pdf
View BVdb publication page