FBN1 c.2326T>G ;(p.C776G)

Variant ID: 15-48788390-A-C

NM_000138.4(FBN1):c.2326T>G;(p.C776G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The role of DNA methylation in syndromic and non-syndromic congenital heart disease.

Clinical Epigenetics
Cao, Jiali J; Wu, Qichang Q; Huang, Yanru Y; Wang, Lingye L; Su, Zhiying Z; Ye, Huiming H
Publication Date: 2021-04-26

Variant appearance in text: FBN1: C776G
PubMed Link: 33902696
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.

Molecular Syndromology
Martínez-Quintana, E E; Rodríguez-González, F F; Garay-Sánchez, P P; Tugores, A A
Publication Date: 2014-08

Variant appearance in text: FBN1: C776G
PubMed Link: 25337071
Variant Present in the following documents:
  • Main text
View BVdb publication page