RUNX2 c.154C>T ;(p.Q52*)

Variant ID: 6-45390425-C-T

NM_001024630.3(RUNX2):c.154C>T;(p.Q52*)

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:

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

American Journal Of Human Genetics
Yoshida, Taketoshi T; Kanegane, Hirokazu H; Osato, Motomi M; Yanagida, Masatoshi M; Miyawaki, Toshio T; Ito, Yoshiaki Y; Shigesada, Katsuya K
Publication Date: 2002-10

Variant appearance in text: RUNX2: Q52X
PubMed Link: 12196916
Variant Present in the following documents:
  • Main text
View BVdb publication page