FLNB c.502G>T ;(p.G168C)

Variant ID: 3-58062982-G-T

NM_001457.3(FLNB):c.502G>T;(p.G168C)

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:

Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.

Molecules (Basel, Switzerland)
S, Udhaya Kumar UK; Sankar, Srivarshini S; Younes, Salma S; D, Thirumal Kumar TK; Ahmad, Muneera Naseer MN; Okashah, Sarah Samer SS; Kamaraj, Balu B; Al-Subaie, Abeer Mohammed AM; C, George Priya Doss GPD; Zayed, Hatem H
Publication Date: 2020-11-26

Variant appearance in text: FLNB: 502G>T; G168C
PubMed Link: 33255942
Variant Present in the following documents:
  • Main text
  • molecules-25-05543.pdf
View BVdb publication page