RUNX2 c.299_300delinsAA ;(p.R100Q)

Variant ID: 6-45390570-GC-AA

NM_001024630.3(RUNX2):c.299_300delinsAA;(p.R100Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY: Bergamo, ItalyJune 05-08, 2019.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Publication Date: 2019-06

Variant appearance in text: CCD: Arg100Gln
PubMed Link: 31309183
Variant Present in the following documents:
  • am-2019-02-45.pdf
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: CCD: R100Q
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
  • BMRI2015-714197.pdf
View BVdb publication page