RUNX2 c.231_232del ;(p.A78Gfs*82)

Variant ID: 6-45390502-CTG-C

NM_001024630.3(RUNX2):c.231_232del;(p.A78Gfs*82)

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 of RUNX2 variants associated with cleidocranial dysplasia.

Hereditas
Gao, Xueren X; Li, Kunxia K; Fan, Yanjie Y; Sun, Yu Y; Luo, Xiaomei X; Wang, Lili L; Liu, Huili H; Gong, Zhuwen Z; Wang, Jianguo J; Wang, Yu Y; Gu, Xuefan X; Yu, Yongguo Y
Publication Date: 2019

Variant appearance in text: RUNX2: 231_232delTG
PubMed Link: 31548836
Variant Present in the following documents:
  • Main text
  • 41065_2019_Article_107.pdf
View BVdb publication page