FBN1 c.5117G>A ;(p.C1706Y)

Variant ID: 15-48755386-C-T

NM_000138.4(FBN1):c.5117G>A;(p.C1706Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: C1706Y
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.

Molecular Genetics & Genomic Medicine
Piccolo, Pasquale P; Sabatino, Valeria V; Mithbaokar, Pratibha P; Polishchuk, Elena E; Hicks, John J; Polishchuk, Roman R; Bacino, Carlos A CA; Brunetti-Pierri, Nicola N
Publication Date: 2019-09

Variant appearance in text: FBN1: 5117G>A; Cys1706Tyr
PubMed Link: 31350823
Variant Present in the following documents:
  • Main text
  • MGG3-7-e844.pdf
View BVdb publication page



Next-generation sequencing for disorders of low and high bone mineral density.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa
Sule, G G; Campeau, P M PM; Zhang, V W VW; Nagamani, S C S SC; Dawson, B C BC; Grover, M M; Bacino, C A CA; Sutton, V R VR; Brunetti-Pierri, N N; Lu, J T JT; Lemire, E E; Gibbs, R A RA; Cohn, D H DH; Cui, H H; Wong, L-J LJ; Lee, B H BH
Publication Date: 2013-08

Variant appearance in text: FBN1: 5117G>A; Cys1706Tyr
PubMed Link: 23443412
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

American Journal Of Human Genetics
Le Goff, Carine C; Mahaut, Clémentine C; Wang, Lauren W LW; Allali, Slimane S; Abhyankar, Avinash A; Jensen, Sacha S; Zylberberg, Louise L; Collod-Beroud, Gwenaelle G; Bonnet, Damien D; Alanay, Yasemin Y; Brady, Angela F AF; Cordier, Marie-Pierre MP; Devriendt, Koen K; Genevieve, David D; Kiper, Pelin Özlem Simsek PÖ; Kitoh, Hiroshi H; Krakow, Deborah D; Lynch, Sally Ann SA; Le Merrer, Martine M; Mégarbane, André A; Mortier, Geert G; Odent, Sylvie S; Polak, Michel M; Rohrbach, Marianne M; Sillence, David D; Stolte-Dijkstra, Irene I; Superti-Furga, Andrea A; Rimoin, David L DL; Topouchian, Vicken V; Unger, Sheila S; Zabel, Bernhard B; Bole-Feysot, Christine C; Nitschke, Patrick P; Handford, Penny P; Casanova, Jean-Laurent JL; Boileau, Catherine C; Apte, Suneel S SS; Munnich, Arnold A; Cormier-Daire, Valérie V
Publication Date: 2011-07-15

Variant appearance in text: FBN1: 5117G>A
PubMed Link: 21683322
Variant Present in the following documents:
  • Main text
View BVdb publication page