Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
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: Asn1907Asp
PubMed Link:
31227806
Variant Present in the following documents:
Main text
View BVdb publication page