FBN1 c.5243G>C ;(p.C1748S)

Variant ID: 15-48752496-C-G

NM_000138.4(FBN1):c.5243G>C;(p.C1748S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Geleophysic dysplasia caused by a mutation in FBN1: A case report.

World Journal Of Clinical Cases
Tao, Ying Y; Wei, Qing Q; Chen, Xun X; Nong, Guang-Min GM
Publication Date: 2021-08-26

Variant appearance in text: FBN1: 5243G>C; Cys1748Ser
PubMed Link: 34540975
Variant Present in the following documents:
  • Main text
  • WJCC-9-7175.pdf
View BVdb publication page



The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Case Reports In Endocrinology
Globa, Evgenia E; Zelinska, Nataliya N; Dauber, Andrew A
Publication Date: 2018

Variant appearance in text: FBN1: 5243G>C; Cys1748Ser
PubMed Link: 30057829
Variant Present in the following documents:
  • Main text
  • CRIE2018-8212417.pdf
View BVdb publication page