FBN1 c.6423del ;(p.Q2141Hfs*19)

Variant ID: 15-48729231-AC-A

NM_000138.4(FBN1):c.6423del;(p.Q2141Hfs*19)

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:

Giant Pulmonary Artery Aneurysm in a Patient With Marfan Syndrome and Pulmonary Hypertension.

Circulation
Chiu, Peter P; Irons, Mallory M; van de Rijn, Matt M; Liang, David H DH; Miller, D Craig DC
Publication Date: 2016-03-22

Variant appearance in text: FBN1: 6423delG
PubMed Link: 27002085
Variant Present in the following documents:
  • Main text
View BVdb publication page