KATNAL1 c.*2075G>A

Variant ID: 13-30780602-C-T

NM_032116.4(KATNAL1):c.*2075G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

Andrology
Cerván-Martín, Miriam M; Bossini-Castillo, Lara L; Guzmán-Jiménez, Andrea A; Rivera-Egea, Rocío R; Garrido, Nicolás N; Lujan, Saturnino S; Romeu, Gema G; Santos-Ribeiro, Samuel S; , ; , ; Castilla, José Antonio JA; Gonzalvo, María Del Carmen MDC; Clavero, Ana A; Maldonado, Vicente V; Vicente, Francisco Javier FJ; Burgos, Miguel M; Jiménez, Rafael R; González-Muñoz, Sara S; Sánchez-Curbelo, Josvany J; López-Rodrigo, Olga O; Pereira-Caetano, Iris I; Marques, Patricia Isabel PI; Carvalho, Filipa F; Barros, Alberto A; Bassas, Lluís L; Seixas, Susana S; Gonçalves, João J; Larriba, Sara S; Lopes, Alexandra Manuel AM; Palomino-Morales, Rogelio Jesús RJ; Carmona, Francisco David FD
Publication Date: 2022-10

Variant appearance in text: rs17074420
PubMed Link: 35752927
Variant Present in the following documents:
  • Main text
  • ANDR-10-1339.pdf
View BVdb publication page



Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.

Journal Of Assisted Reproduction And Genetics
Fedick, Anastasia M AM; Eckert, Kyle K; Thompson, Katharine K; Forman, Eric J EJ; Devkota, Batsal B; Treff, Nathan R NR; Taylor, Deanne D; Scott, Richard T RT
Publication Date: 2014-08

Variant appearance in text: rs17074420
PubMed Link: 24913027
Variant Present in the following documents:
  • Main text
View BVdb publication page