CYP21A2 c.1174G>C ;(p.A392P)

Variant ID: 6-32008500-G-C

NM_000500.7(CYP21A2):c.1174G>C;(p.A392P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs202242769
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Pharmacogenomic landscape of Indian population using whole genomes.

Clinical And Translational Science
Sahana, S S; Bhoyar, Rahul C RC; Sivadas, Ambily A; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Senthivel, Vigneshwar V; Kumar Diwakar, Mohit M; Sharma, Disha D; Mishra, Anushree A; Sivasubbu, Sridhar S; Scaria, Vinod V
Publication Date: 2022-04

Variant appearance in text: rs202242769
PubMed Link: 35338580
Variant Present in the following documents:
  • Main text
  • CTS-15-866.pdf
View BVdb publication page



EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg
Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W
Publication Date: 2020-10

Variant appearance in text: rs202242769
PubMed Link: 32616876
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_653.pdf
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs202242769
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page