FLNB c.5706C>A ;(p.S1902R)

Variant ID: 3-58132698-C-A

NM_001457.3(FLNB):c.5706C>A;(p.S1902R)

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:

Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.

Scientific Reports
Seppälä, Jonne J; Bernardi, Rafael C RC; Haataja, Tatu J K TJK; Hellman, Maarit M; Pentikäinen, Olli T OT; Schulten, Klaus K; Permi, Perttu P; Ylänne, Jari J; Pentikäinen, Ulla U
Publication Date: 2017-06-26

Variant appearance in text: FLNB: S1902R
PubMed Link: 28652603
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4441.pdf
View BVdb publication page