FBN1 c.4346A>T ;(p.E1449V)

Variant ID: 15-48762944-T-A

NM_000138.4(FBN1):c.4346A>T;(p.E1449V)

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:

Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

American Journal Of Translational Research
Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R
Publication Date: 2021

Variant appearance in text: FBN1: 4346A>T; Glu1449Val
PubMed Link: 34150014
Variant Present in the following documents:
  • Main text
View BVdb publication page