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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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