FBN1 c.2373del ;(p.C792Afs*11)

Variant ID: 15-48788342-AG-A

NM_000138.4(FBN1):c.2373del;(p.C792Afs*11)

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:

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: FBN1: 2373delC
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
View BVdb publication page