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FBN1 c.3589G>A ;(p.D1197N)
Variant ID: 15-48779272-C-T
NM_000138.4(
FBN1
):c.3589G>A;(p.D1197N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
European Journal Of Human Genetics : Ejhg
Baudhuin, Linnea M LM; Kluge, Michelle L ML; Kotzer, Katrina E KE; Lagerstedt, Susan A SA
Publication Date: 2019-10
Variant appearance in text: FBN1: Asp1197Asn
PubMed Link:
31227806
Variant Present in the following documents:
Main text
View BVdb publication page
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
Nature Genetics
Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J
Publication Date: 2015-05
Variant appearance in text: FBN1: D1197N
PubMed Link:
25822088
Variant Present in the following documents:
NIHMS62359-supplement-Table3.xlsx, sheet 1
View BVdb publication page