FBN1 c.5719A>G ;(p.N1907D)

Variant ID: 15-48738972-T-C

NM_000138.4(FBN1):c.5719A>G;(p.N1907D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.

European Journal Of Human Genetics : Ejhg
Baudhuin, Linnea M LM; Kluge, Michelle L ML; Kotzer, Katrina E KE; Lagerstedt, Susan A SA
Publication Date: 2019-10

Variant appearance in text: FBN1: Asn1907Asp
PubMed Link: 31227806
Variant Present in the following documents:
  • Main text
View BVdb publication page