FLNB c.626T>A ;(p.L209Q)

Variant ID: 3-58064528-T-A

NM_001457.3(FLNB):c.626T>A;(p.L209Q)

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:

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

American Journal Of Medical Genetics. Part A
Rehder, Helga H; Laccone, Franco F; Kircher, Susanne G SG; Schild, Ralf L RL; Rapp, Christiane C; Bald, Rainer R; Schulze, Bernt B; Behunova, Jana J; Neesen, Juergen J; Schoner, Katharina K
Publication Date: 2018-07

Variant appearance in text: FLNB: 626T>A; Leu209Gln
PubMed Link: 29797497
Variant Present in the following documents:
  • Main text
  • AJMG-176-1559.pdf
View BVdb publication page