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FBN1 c.5782T>A ;(p.C1928S)
Variant ID: 15-48738909-A-T
NM_000138.4(
FBN1
):c.5782T>A;(p.C1928S)
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:
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Bmc Musculoskeletal Disorders
Reyes-Hernández, Octavio D OD; Palacios-Reyes, Carmen C; Chávez-Ocaña, Sonia S; Cortés-Malagón, Enoc M EM; Alonso-Themann, Patricia Garcia PG; Ramos-Cano, Víctor V; Ramírez-Bello, Julián J; Sierra-Martínez, Mónica M
Publication Date: 2016-02-15
Variant appearance in text: FBN1: C1928S
PubMed Link:
26875674
Variant Present in the following documents:
Main text
12891_2016_Article_935.pdf
View BVdb publication page