FBN1 c.979_981delinsTGG ;(p.R327W)

Variant ID: 15-48818334-TCT-CCA

NM_000138.4(FBN1):c.979_981delinsTGG;(p.R327W)

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:

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

American Journal Of Medical Genetics. Part A
Schubert, Jeffrey A JA; Landis, Benjamin J BJ; Shikany, Amy R AR; Hinton, Robert B RB; Ware, Stephanie M SM
Publication Date: 2016-05

Variant appearance in text: FBN1: Arg327Trp
PubMed Link: 26854089
Variant Present in the following documents:
  • Main text
View BVdb publication page