FLNB c.685T>C ;(p.S229P)

Variant ID: 3-58067401-T-C

NM_001457.3(FLNB):c.685T>C;(p.S229P)

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:

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.

Biomed Research International
Yang, Kai K; Shen, Ming M; Yan, Yousheng Y; Tan, Ya Y; Zhang, Jing J; Wu, Jue J; Yang, Guangming G; Li, Shang S; Wang, Jing J; Ren, Zhuo Z; Dong, Zhe Z; Wang, Shan S; Zhang, Manli M; Tian, Yaping Y
Publication Date: 2019

Variant appearance in text: FLNB: 685T>C; Ser229Pro
PubMed Link: 31218223
Variant Present in the following documents:
  • Main text
  • BMRI2019-2492590.pdf
View BVdb publication page