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FBN1 c.2215T>C ;(p.C739R)
Variant ID: 15-48789541-A-G
NM_000138.4(
FBN1
):c.2215T>C;(p.C739R)
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:
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
European Journal Of Human Genetics : Ejhg
Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C
Publication Date: 2009-09
Variant appearance in text: FBN1: 2215T>C
PubMed Link:
19293843
Variant Present in the following documents:
Main text
View BVdb publication page