FBN1 c.6366_6367insA ;(p.D2123Rfs*5)

Variant ID: 15-48729531-C-CT

NM_000138.4(FBN1):c.6366_6367insA;(p.D2123Rfs*5)

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: 6366_6367insA
PubMed Link: 33282382
Variant Present in the following documents:
  • Main text
  • jtd-12-11-6806.pdf
View BVdb publication page