FBN1 c.8353_8355delinsTAT ;(p.T2785Y)

Variant ID: 15-48703448-TGT-ATA

NM_000138.4(FBN1):c.8353_8355delinsTAT;(p.T2785Y)

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:

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Genetics Research
Zhurayev, Rustam R; Proost, Dorien D; Zerbino, Dmytro D; Fedorenko, Viktor V; Meester, Josephina A N JA; VAN Laer, Lut L; Loeys, Bart L BL
Publication Date: 2016-10-11

Variant appearance in text: FBN1: Thr2785Tyr
PubMed Link: 27724990
Variant Present in the following documents:
  • Main text
View BVdb publication page