FBN1 c.1643del ;(p.N548Tfs*31)

Variant ID: 15-48802311-GT-G

NM_000138.4(FBN1):c.1643del;(p.N548Tfs*31)

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:

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Quarto, Natalina N; Leonard, Brian B; Li, Shuli S; Marchand, Melanie M; Anderson, Erica E; Behr, Barry B; Francke, Uta U; Reijo-Pera, Renee R; Chiao, Eric E; Longaker, Michael T MT
Publication Date: 2012-01-03

Variant appearance in text: FBN1: 1642del
PubMed Link: 22178754
Variant Present in the following documents:
  • Main text
View BVdb publication page