FBN1 c.1846G>C ;(p.E616Q)

Variant ID: 15-48797336-C-G

NM_000138.4(FBN1):c.1846G>C;(p.E616Q)

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:

Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.

Medicine And Science In Sports And Exercise
Herrick, Nicole N; Davis, Christopher C; Vargas, Lisa L; Dietz, Hal H; Grossfeld, Paul P
Publication Date: 2017-07

Variant appearance in text: FBN1: 1846G>C; Glu616Gln
PubMed Link: 28240702
Variant Present in the following documents:
  • Main text
View BVdb publication page