FBN1 c.3511T>C ;(p.C1171R)

Variant ID: 15-48779350-A-G

NM_000138.4(FBN1):c.3511T>C;(p.C1171R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 3511T>C; Cys1171Arg
PubMed Link: 19002209
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Bmc Genomics
Yao, Zizhen Z; Jaeger, Jochen C JC; Ruzzo, Walter L WL; Morale, Cecile Z CZ; Emond, Mary M; Francke, Uta U; Milewicz, Dianna M DM; Schwartz, Stephen M SM; Mulvihill, Eileen R ER
Publication Date: 2007-09-12

Variant appearance in text: FBN1: C1171R
PubMed Link: 17850668
Variant Present in the following documents:
  • Main text
View BVdb publication page