FBN1 c.5764del ;(p.L1922Ffs*8)

Variant ID: 15-48738926-AG-A

NM_000138.4(FBN1):c.5764del;(p.L1922Ffs*8)

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:

Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.

Human Molecular Genetics
Inoue, Tadashi T; Ohbayashi, Tetsuya T; Fujikawa, Yusuke Y; Yoshida, Hideyuki H; Akama, Tomoya O TO; Noda, Kazuo K; Horiguchi, Masahito M; Kameyama, Katsuro K; Hata, Yoshio Y; Takahashi, Kanji K; Kusumoto, Kenji K; Nakamura, Tomoyuki T
Publication Date: 2014-11-01

Variant appearance in text: FBN1: 5763delC
PubMed Link: 24908666
Variant Present in the following documents:
  • Main text
View BVdb publication page