RUNX2 c.686_687delinsAC ;(p.R229N)

Variant ID: 6-45459678-GG-AC

NM_001024630.3(RUNX2):c.686_687delinsAC;(p.R229N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

American Journal Of Human Genetics
Moffatt, Pierre P; Ben Amor, Mouna M; Glorieux, Francis H FH; Roschger, Paul P; Klaushofer, Klaus K; Schwartzentruber, Jeremy A JA; Paterson, Andrew D AD; Hu, Pingzhao P; Marshall, Christian C; , ; Fahiminiya, Somayyeh S; Majewski, Jacek J; Beaulieu, Chandree L CL; Boycott, Kym M KM; Rauch, Frank F
Publication Date: 2013-02-07

Variant appearance in text: RUNX2: Arg229Asn
PubMed Link: 23290074
Variant Present in the following documents:
  • Main text
View BVdb publication page