TG c.3089A>G ;(p.Q1030R)

Variant ID: 8-133909981-A-G

NM_003235.4(TG):c.3089A>G;(p.Q1030R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

Biomed Research International
Zhang, Jian-Hui JH; Ruan, Dan-Dan DD; Hu, Ya-Nan YN; Ruan, Xing-Lin XL; Zhu, Yao-Bin YB; Yang, Xiao X; Wu, Jia-Bin JB; Lin, Xin-Fu XF; Luo, Jie-Wei JW; Tang, Fa-Qiang FQ
Publication Date: 2021

Variant appearance in text: TG: Gln1030Arg
PubMed Link: 34046503
Variant Present in the following documents:
  • Main text
  • BMRI2021-9973161.pdf
View BVdb publication page