FBN1 c.2228G>T ;(p.R743L)

Variant ID: 15-48789528-C-A

NM_000138.4(FBN1):c.2228G>T;(p.R743L)

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:

Tracing the evolution of aneuploid cancers by multiregional sequencing with CRUST.

Briefings In Bioinformatics
Chattopadhyay, Subhayan S; Karlsson, Jenny J; Valind, Anders A; Andersson, Natalie N; Gisselsson, David D
Publication Date: 2021-11-05

Variant appearance in text: FBN1: R743L
PubMed Link: 34343239
Variant Present in the following documents:
  • supplementary_table_2_bbab292.xlsx, sheet 6
View BVdb publication page