FBN1 c.3757C>T ;(p.Q1253*)

Variant ID: 15-48776096-G-A

NM_000138.4(FBN1):c.3757C>T;(p.Q1253*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: FBN1: 3757C>T; Gln1253*
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Legius syndrome in fourteen families.

Human Mutation
Denayer, Ellen E; Chmara, Magdalena M; Brems, Hilde H; Kievit, Anneke Maat AM; van Bever, Yolande Y; Van den Ouweland, Ans M W AM; Van Minkelen, Rick R; de Goede-Bolder, Arja A; Oostenbrink, Rianne R; Lakeman, Phillis P; Beert, Eline E; Ishizaki, Takuma T; Mori, Tomoaki T; Keymolen, Kathelijn K; Van den Ende, Jenneke J; Mangold, Elisabeth E; Peltonen, Sirkku S; Brice, Glen G; Rankin, Julia J; Van Spaendonck-Zwarts, Karin Y KY; Yoshimura, Akihiko A; Legius, Eric E
Publication Date: 2011-01

Variant appearance in text: FBN1: 3757C>T; Gln1253X
PubMed Link: 21089071
Variant Present in the following documents:
  • Main text
  • humu0032-E1985.pdf
View BVdb publication page