FBN1 c.4628A>C ;(p.D1543A)

Variant ID: 15-48760254-T-G

NM_000138.4(FBN1):c.4628A>C;(p.D1543A)

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:

Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach.

Biomacromolecules
Hubmacher, Dirk D; Bergeron, Eric E; Fagotto-Kaufmann, Christine C; Sakai, Lynn Y LY; Reinhardt, Dieter P DP
Publication Date: 2014-04-14

Variant appearance in text: FBN1: 4628A>C
PubMed Link: 24559401
Variant Present in the following documents:
  • Main text
View BVdb publication page