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FBN1 c.3545G>C ;(p.C1182S)
Variant ID: 15-48779316-C-G
NM_000138.4(
FBN1
):c.3545G>C;(p.C1182S)
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:
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Plos One
Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA
Publication Date: 2021
Variant appearance in text: FBN1: 3545G>C; Cys1182Ser
PubMed Link:
33735269
Variant Present in the following documents:
pone.0248532.s001.xlsx, sheet 1
View BVdb publication page
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
The Journal Of Biological Chemistry
Kirschner, Ryan R; Hubmacher, Dirk D; Iyengar, Garud G; Kaur, Jasvir J; Fagotto-Kaufmann, Christine C; Brömme, Dieter D; Bartels, Rainer R; Reinhardt, Dieter P DP
Publication Date: 2011-09-16
Variant appearance in text: FBN1: C1182S
PubMed Link:
21784848
Variant Present in the following documents:
Main text
View BVdb publication page