PIK3CA c.1587_1588insT ;(p.Q530Sfs*13)

Variant ID: 3-178936045-A-AT

NM_006218.2(PIK3CA):c.1587_1588insT;(p.Q530Sfs*13)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in IRS4 are associated with central hypothyroidism.

Journal Of Medical Genetics
Heinen, Charlotte A CA; de Vries, Emmely M EM; Alders, Mariƫlle M; Bikker, Hennie H; Zwaveling-Soonawala, Nitash N; van den Akker, Erica L T ELT; Bakker, Boudewijn B; Hoorweg-Nijman, Gera G; Roelfsema, Ferdinand F; Hennekam, Raoul C RC; Boelen, Anita A; van Trotsenburg, A S Paul ASP; Fliers, Eric E
Publication Date: 2018-10

Variant appearance in text: PI3K: 1587_1588insT
PubMed Link: 30061370
Variant Present in the following documents:
  • Main text
  • jmedgenet-2017-105113.pdf
View BVdb publication page