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FBN1 c.6369T>G ;(p.D2123E)
Variant ID: 15-48729529-A-C
NM_000138.4(
FBN1
):c.6369T>G;(p.D2123E)
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:
Acute Stanford type B aortic dissection-who benefits from genetic testing?
Journal Of Thoracic Disease
Erhart, Philipp P; Gieldon, Laura L; Ante, Marius M; Körfer, Daniel D; Strom, Tim T; Grond-Ginsbach, Caspar C; Böckler, Dittmar D
Publication Date: 2020-11
Variant appearance in text: FBN1: Asp2123Glu
PubMed Link:
33282382
Variant Present in the following documents:
Main text
jtd-12-11-6806.pdf
View BVdb publication page