FBN1 c.3958T>A ;(p.C1320S)

Variant ID: 15-48773858-A-T

NM_000138.4(FBN1):c.3958T>A;(p.C1320S)

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: C1320S
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics
Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-BĂ©roud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M
Publication Date: 2006-10

Variant appearance in text: FBN1: C1320S
PubMed Link: 16571647
Variant Present in the following documents:
  • Main text
View BVdb publication page