RUNX2 c.1552del ;(p.W518Gfs*61)

Variant ID: 6-45515025-GT-G

NM_001024630.3(RUNX2):c.1552del;(p.W518Gfs*61)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.

Genes & Genomics
Gong, Lei L; Odilov, Bekzod B; Han, Feng F; Liu, Fuqiang F; Sun, Yujing Y; Zhang, Ningxin N; Zuo, Xiaolin X; Yang, Jiaojiao J; Wang, Shouyu S; Hou, Xinguo X; Ren, Jianmin J
Publication Date: 2022-06

Variant appearance in text: RUNX2: 1550delT
PubMed Link: 35235174
Variant Present in the following documents:
  • Main text
  • 13258_2022_Article_1229.pdf
View BVdb publication page