FBN1 c.5872T>C ;(p.C1958R)

Variant ID: 15-48737618-A-G

NM_000138.4(FBN1):c.5872T>C;(p.C1958R)

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:

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

Case Reports In Genetics
Mohammad, Ahmed A; Helmi, Haytham H; Atwal, Paldeep S PS
Publication Date: 2018

Variant appearance in text: FBN1: C1958R
PubMed Link: 29796325
Variant Present in the following documents:
  • Main text
  • CRIG2018-6780494.pdf
View BVdb publication page