FBN1 c.8489A>G ;(p.Q2830R)

Variant ID: 15-48703314-T-C

NM_000138.4(FBN1):c.8489A>G;(p.Q2830R)

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:

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics
Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G
Publication Date: 2020-02

Variant appearance in text: FBN1: 8489A>G; Gln2830Arg
PubMed Link: 31506931
Variant Present in the following documents:
  • Main text
  • CGE-97-235-s001.pdf
  • CGE-97-235.pdf
View BVdb publication page