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FBN1 c.6548A>G ;(p.N2183S)
Variant ID: 15-48726859-T-C
NM_000138.4(
FBN1
):c.6548A>G;(p.N2183S)
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:
The molecular genetics of Marfan syndrome and related disorders.
Journal Of Medical Genetics
Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-BĂ©roud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M
Publication Date: 2006-10
Variant appearance in text: FBN1: N2183S
PubMed Link:
16571647
Variant Present in the following documents:
Main text
View BVdb publication page