FBN1 c.4206T>G ;(p.C1402W)

Variant ID: 15-48766456-A-C

NM_000138.4(FBN1):c.4206T>G;(p.C1402W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: FBN1: C1402W
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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: C1402W
PubMed Link: 17850668
Variant Present in the following documents:
  • Main text
View BVdb publication page