FBN1 c.5250T>A ;(p.S1750R)

Variant ID: 15-48752489-A-T

NM_000138.4(FBN1):c.5250T>A;(p.S1750R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Regulation of Adult Stature in Humans.

The Journal Of Clinical Endocrinology And Metabolism
Root, Allen W AW
Publication Date: 2020-07-01

Variant appearance in text: FBN1: Ser1750Arg
PubMed Link: 32300792
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

Plos One
Cain, Stuart A SA; McGovern, Amanda A; Baldwin, Andrew K AK; Baldock, Clair C; Kielty, Cay M CM
Publication Date: 2012

Variant appearance in text: FBN1: S1750R
PubMed Link: 23133647
Variant Present in the following documents:
  • Main text
  • pone.0048634.pdf
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: Ser1750Arg
PubMed Link: 21683322
Variant Present in the following documents:
  • Main text
View BVdb publication page