F2 c.1499G>A ;(p.R500Q)

Variant ID: 11-46750956-G-A

NM_000506.3(F2):c.1499G>A;(p.R500Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: F2: 1499G>A; R500Q; rs202003146
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs202003146
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Assessing risk for Mendelian disorders in a Bronx population.

Molecular Genetics & Genomic Medicine
diSibio, Guy G; Upadhyay, Kinnari K; Meyer, Philip P; Oddoux, Carole C; Ostrer, Harry H
Publication Date: 2017-09

Variant appearance in text: rs202003146
PubMed Link: 28944235
Variant Present in the following documents:
  • Main text
  • MGG3-5-516-s001.xlsx, sheet 2
  • MGG3-5-516.pdf
View BVdb publication page



Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.

Neurobiology Of Disease
Tang, Bin B; Sander, Thomas T; Craven, Kimberley B KB; Hempelmann, Anne A; Escayg, Andrew A
Publication Date: 2008-01

Variant appearance in text: F2: R500Q
PubMed Link: 17931874
Variant Present in the following documents:
  • Main text
View BVdb publication page