FBN1 c.7016G>C ;(p.C2339S)

Variant ID: 15-48719952-C-G

NM_000138.4(FBN1):c.7016G>C;(p.C2339S)

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:

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

European Heart Journal. Case Reports
Suliman, Asem A; Yan, Weiang W; Yamashita, Michael H MH; Krentz, Anthony D AD; Mhanni, Aizeddin A; Garber, Philip J PJ
Publication Date: 2022-03

Variant appearance in text: FBN1: 7016G>C; Cys2339Ser
PubMed Link: 35372756
Variant Present in the following documents:
  • Main text
  • ytac063.pdf
View BVdb publication page