Bibliome.ai browser hg19
Search
About
Stats
FAQ
FBN1 c.7276_7278del ;(p.H2426del)
Variant ID: 15-48717987-AATG-A
NM_000138.4(
FBN1
):c.7276_7278del;(p.H2426del)
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:
Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome.
Journal Of Cardiology Cases
Cabrera-Bueno, Fernando F; Fernandez-Rosado, Francisco F; Alvarez-Cubero, Maria Jesus MJ; Martinez-Espin, Esther E; Entrala-Bernal, Carmen C
Publication Date: 2014-12
Variant appearance in text: FBN1: 7276_7278delCAT
PubMed Link:
30534251
Variant Present in the following documents:
Main text
View BVdb publication page