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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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