PROK2 c.68G>A ;(p.R23H)

Variant ID: 3-71834136-C-T

NM_001126128.1(PROK2):c.68G>A;(p.R23H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.

Human Genomics
Ayers, Katie L KL; Bouty, Aurore A; Robevska, Gorjana G; van den Bergen, Jocelyn A JA; Juniarto, Achmad Zulfa AZ; Listyasari, Nurin Aisyiyah NA; Sinclair, Andrew H AH; Faradz, Sultana M H SM
Publication Date: 2017-02-16

Variant appearance in text: PROK2: R23H
PubMed Link: 28209183
Variant Present in the following documents:
  • Main text
  • 40246_2017_Article_98.pdf
View BVdb publication page



Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biology
Eggers, Stefanie S; Sadedin, Simon S; van den Bergen, Jocelyn A JA; Robevska, Gorjana G; Ohnesorg, Thomas T; Hewitt, Jacqueline J; Lambeth, Luke L; Bouty, Aurore A; Knarston, Ingrid M IM; Tan, Tiong Yang TY; Cameron, Fergus F; Werther, George G; Hutson, John J; O'Connell, Michele M; Grover, Sonia R SR; Heloury, Yves Y; Zacharin, Margaret M; Bergman, Philip P; Kimber, Chris C; Brown, Justin J; Webb, Nathalie N; Hunter, Matthew F MF; Srinivasan, Shubha S; Titmuss, Angela A; Verge, Charles F CF; Mowat, David D; Smith, Grahame G; Smith, Janine J; Ewans, Lisa L; Shalhoub, Carolyn C; Crock, Patricia P; Cowell, Chris C; Leong, Gary M GM; Ono, Makato M; Lafferty, Antony R AR; Huynh, Tony T; Visser, Uma U; Choong, Catherine S CS; McKenzie, Fiona F; Pachter, Nicholas N; Thompson, Elizabeth M EM; Couper, Jennifer J; Baxendale, Anne A; Gecz, Jozef J; Wheeler, Benjamin J BJ; Jefferies, Craig C; MacKenzie, Karen K; Hofman, Paul P; Carter, Philippa P; King, Richard I RI; Krausz, Csilla C; van Ravenswaaij-Arts, Conny M A CM; Looijenga, Leendert L; Drop, Sten S; Riedl, Stefan S; Cools, Martine M; Dawson, Angelika A; Juniarto, Achmad Zulfa AZ; Khadilkar, Vaman V; Khadilkar, Anuradha A; Bhatia, Vijayalakshmi V; Dũng, Vũ Chí VC; Atta, Irum I; Raza, Jamal J; Thi Diem Chi, Nguyen N; Hao, Tran Kiem TK; Harley, Vincent V; Koopman, Peter P; Warne, Garry G; Faradz, Sultana S; Oshlack, Alicia A; Ayers, Katie L KL; Sinclair, Andrew H AH
Publication Date: 2016-11-29

Variant appearance in text: PROK2: R23H
PubMed Link: 27899157
Variant Present in the following documents:
  • 13059_2016_1105_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page