FBN1 c.213G>T ;(p.W71C)

Variant ID: 15-48905241-C-A

NM_000138.4(FBN1):c.213G>T;(p.W71C)

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:

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Orphanet Journal Of Rare Diseases
Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F
Publication Date: 2018-01-22

Variant appearance in text: FBN1: Trp71Cys
PubMed Link: 29357934
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_754.pdf
View BVdb publication page