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FBN1 c.272A>C ;(p.D91A)
Variant ID: 15-48902999-T-G
NM_000138.4(
FBN1
):c.272A>C;(p.D91A)
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:
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
European Journal Of Human Genetics : Ejhg
Aubart, Melodie M; Gazal, Steven S; Arnaud, Pauline P; Benarroch, Louise L; Gross, Marie-Sylvie MS; Buratti, Julien J; Boland, Anne A; Meyer, Vincent V; Zouali, Habib H; Hanna, Nadine N; Milleron, Olivier O; Stheneur, Chantal C; Bourgeron, Thomas T; Desguerre, Isabelle I; Jacob, Marie-Paule MP; Gouya, Laurent L; Génin, Emmanuelle E; Deleuze, Jean-François JF; Jondeau, Guillaume G; Boileau, Catherine C
Publication Date: 2018-12
Variant appearance in text: FBN1: D91A
PubMed Link:
30087447
Variant Present in the following documents:
Main text
View BVdb publication page