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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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