FBN1 c.1093T>C ;(p.C365R)

Variant ID: 15-48812910-A-G

NM_000138.4(FBN1):c.1093T>C;(p.C365R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10

Variant appearance in text: FBN1: 1093T>C; Cys365Arg
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1800.pdf
View BVdb publication page



Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10

Variant appearance in text: FBN1: 1093T>C; Cys365Arg
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1800.pdf
View BVdb publication page



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: C365R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page