FBN1 c.3668G>A ;(p.C1223Y)

Variant ID: 15-48777615-C-T

NM_000138.4(FBN1):c.3668G>A;(p.C1223Y)

This variant was identified in 12 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: FBN1: 3668G>A; Cys1223Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FBN1: 3668G>A; Cys1223Tyr
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Case Reports In Genetics
Gustafson, Jonas J; Bjork, Maria M; van Ravenswaaij-Arts, Conny M A CMA; Cunningham, Michael L ML
Publication Date: 2022

Variant appearance in text: FBN1: 3668G>A; C1223Y
PubMed Link: 35378950
Variant Present in the following documents:
  • CRIG2022-3239260.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 3668G>A; C1223Y
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: FBN1: 3668G>A; C1223Y
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: FBN1: 3668G>A; Cys1223Tyr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: FBN1: 3668G>A; C1223Y
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs137854469
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: FBN1: C1223Y
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.

Molecular Vision
Jelodari-Mamaghani, Sahar S; Haji-Seyed-Javadi, Ramona R; Suri, Fatemeh F; Nilforushan, Naveed N; Yazdani, Shahin S; Kamyab, Kambiz K; Elahi, Elahe E
Publication Date: 2013

Variant appearance in text: FBN1: Cys1223Tyr
PubMed Link: 23401661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Nature Genetics
Doyle, Alexander J AJ; Doyle, Jefferson J JJ; Bessling, Seneca L SL; Maragh, Samantha S; Lindsay, Mark E ME; Schepers, Dorien D; Gillis, Elisabeth E; Mortier, Geert G; Homfray, Tessa T; Sauls, Kimberly K; Norris, Russell A RA; Huso, Nicholas D ND; Leahy, Dan D; Mohr, David W DW; Caulfield, Mark J MJ; Scott, Alan F AF; Destrée, Anne A; Hennekam, Raoul C RC; Arn, Pamela H PH; Curry, Cynthia J CJ; Van Laer, Lut L; McCallion, Andrew S AS; Loeys, Bart L BL; Dietz, Harry C HC
Publication Date: 2012-11

Variant appearance in text: FBN1: Cys1223Tyr
PubMed Link: 23023332
Variant Present in the following documents:
  • Main text
  • nihms405346.pdf
View BVdb publication page



Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European Journal Of Human Genetics : Ejhg
Faivre, L L; Collod-Beroud, G G; Callewaert, B B; Child, A A; Binquet, C C; Gautier, E E; Loeys, B L BL; Arbustini, E E; Mayer, K K; Arslan-Kirchner, M M; Stheneur, C C; Kiotsekoglou, A A; Comeglio, P P; Marziliano, N N; Wolf, J E JE; Bouchot, O O; Khau-Van-Kien, P P; Beroud, C C; Claustres, M M; Bonithon-Kopp, C C; Robinson, P N PN; Adès, L L; De Backer, J J; Coucke, P P; Francke, U U; De Paepe, A A; Jondeau, G G; Boileau, C C
Publication Date: 2009-04

Variant appearance in text: FBN1: 3668G>A; Cys1223Tyr
PubMed Link: 19002209
Variant Present in the following documents:
  • Main text
View BVdb publication page