FBN1 c.4955G>A ;(p.C1652Y)

Variant ID: 15-48756206-C-T

NM_000138.4(FBN1):c.4955G>A;(p.C1652Y)

This variant was identified in 6 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: Cys1652Tyr; rs397515817
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: 4955G>A; Cys1652Tyr
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: 4955G>A; Cys1652Tyr
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.

Frontiers In Molecular Biosciences
Chen, Songchang S; Fei, Hongjun H; Zhang, Junyun J; Chen, Yiyao Y; Huang, Hefeng H; Lu, Daru D; Xu, Chenming C
Publication Date: 2021

Variant appearance in text: FBN1: 4955G>A; Cys1652Tyr
PubMed Link: 34957211
Variant Present in the following documents:
  • Main text
  • fmolb-08-749842.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: 4955G>A; C1652Y
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: FBN1: 4955G>A; Cys1652Tyr
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page