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FBN1 c.8225A>G ;(p.E2742G)
Variant ID: 15-48704767-T-C
NM_000138.4(
FBN1
):c.8225A>G;(p.E2742G)
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:
Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.
Bmc Cardiovascular Disorders
Ma, Mingjia M; Li, Zongzhe Z; Mohamed, Mohamed Abdulkadir MA; Liu, Ligang L; Wei, Xiang X
Publication Date: 2021-08-30
Variant appearance in text: FBN1: 8225A>G; Glu2742Gly
PubMed Link:
34461831
Variant Present in the following documents:
12872_2021_2215_MOESM1_ESM.pdf
View BVdb publication page