FBN1 c.3718G>A ;(p.D1240N)

Variant ID: 15-48776135-C-T

NM_000138.4(FBN1):c.3718G>A;(p.D1240N)

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:

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: Asp1240Asn
PubMed Link: 31227806
Variant Present in the following documents:
  • Main text
View BVdb publication page