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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