FBN1 c.5202del ;(p.E1734Dfs*159)

Variant ID: 15-48755300-GT-G

NM_000138.4(FBN1):c.5202del;(p.E1734Dfs*159)

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:

Down syndrome masked by Marfan syndrome in a neonate.

Bmj Case Reports
Eayrs, Katie K; Shettihalli, Naveen N; Adwani, Satish S
Publication Date: 2013-03-11

Variant appearance in text: FBN1: 5202delA
PubMed Link: 23483062
Variant Present in the following documents:
  • Main text
View BVdb publication page