FBN1 c.3475T>G ;(p.C1159G)

Variant ID: 15-48779386-A-C

NM_000138.4(FBN1):c.3475T>G;(p.C1159G)

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:

The genetic and molecular basis of bicuspid aortic valve associated thoracic aortopathy: a link to phenotype heterogeneity.

Annals Of Cardiothoracic Surgery
Padang, Ratnasari R; Bannon, Paul G PG; Jeremy, Richmond R; Richmond, David R DR; Semsarian, Christopher C; Vallely, Michael M; Wilson, Michael M; Yan, Tristan D TD
Publication Date: 2013-01

Variant appearance in text: FBN1: c1159G
PubMed Link: 23977563
Variant Present in the following documents:
  • Main text
View BVdb publication page