FBN1 c.1646_1647del ;(p.T549Rfs*9)

Variant ID: 15-48802307-CTG-C

NM_000138.4(FBN1):c.1646_1647del;(p.T549Rfs*9)

This variant was identified in 1 publication

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: 1646_1647del; Thr549fs
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: 1646_1647del; Thr549fs
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1800.pdf
View BVdb publication page