FBN1 c.3396del ;(p.E1133Rfs*29)

Variant ID: 15-48779576-CT-C

NM_000138.4(FBN1):c.3396del;(p.E1133Rfs*29)

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:

Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.

Case Reports In Medicine
Rozendaal, L L; Blom, N A NA; Hilhorst-Hofstee, Y Y; Ten Harkel, A D J AD
Publication Date: 2011

Variant appearance in text: FBN1: 3396delA; Glu1133ArgfsX29
PubMed Link: 21776272
Variant Present in the following documents:
  • Main text
  • CRIM2011-172109.pdf
View BVdb publication page