FBN1 c.7003C>T ;(p.R2335W)

Variant ID: 15-48719965-G-A

NM_000138.4(FBN1):c.7003C>T;(p.R2335W)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Journal Of Translational Medicine
Ponińska, Joanna Kinga JK; Bilińska, Zofia Teresa ZT; Truszkowska, Grażyna G; Michalak, Ewa E; Podgórska, Anna A; Stępień-Wojno, Małgorzata M; Chmielewski, Przemysław P; Lutyńska, Anna A; Płoski, Rafał R
Publication Date: 2022-01-25

Variant appearance in text: FBN1: 7003C>T; Arg2335Trp
PubMed Link: 35078481
Variant Present in the following documents:
  • 12967_2022_3251_MOESM1_ESM.pdf
View BVdb publication page



Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.

International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Publication Date: 2021-12-31

Variant appearance in text: FBN1: 7003C>T
PubMed Link: 35008861
Variant Present in the following documents:
  • Main text
  • ijms-23-00438.pdf
View BVdb publication page



Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.

International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Publication Date: 2021-12-31

Variant appearance in text: FBN1: 7003C>T
PubMed Link: 35008861
Variant Present in the following documents:
  • Main text
  • ijms-23-00438.pdf
View BVdb publication page



Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
Publication Date: 2021-10-18

Variant appearance in text: FBN1: 7003C>T
PubMed Link: 34663891
Variant Present in the following documents:
  • 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: FBN1: R2335W
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,
Publication Date: 2020-06

Variant appearance in text: FBN1: 7003C>T; Arg2335Trp; rs794728262
PubMed Link: 32123317
Variant Present in the following documents:
  • 41436_2020_766_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: FBN1: 7003C>T; R2335W
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Orphanet Journal Of Rare Diseases
Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F
Publication Date: 2018-01-22

Variant appearance in text: FBN1: Arg2335Trp
PubMed Link: 29357934
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_754.pdf
View BVdb publication page