FBN1 c.164G>A ;(p.G55E)

Variant ID: 15-48936803-C-T

NM_000138.4(FBN1):c.164G>A;(p.G55E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12

Variant appearance in text: FBN1: Gly55Glu
PubMed Link: 37042257
Variant Present in the following documents:
  • JAH3-12-e028625.pdf
  • JAH3-12-e028625-s001.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: 164G>A; Gly55Glu
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: 164G>A; Gly55Glu
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1800.pdf
View BVdb publication page