FBN1 c.5344T>C ;(p.C1782R)

Variant ID: 15-48748912-A-G

NM_000138.4(FBN1):c.5344T>C;(p.C1782R)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

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: C1782R
PubMed Link: 25337071
Variant Present in the following documents:
  • Main text
View BVdb publication page