RUNX2 c.532del ;(p.Q178Kfs*2)

Variant ID: 6-45399706-AC-A

NM_001024630.3(RUNX2):c.532del;(p.Q178Kfs*2)

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:

Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia.

Molecular Syndromology
Hordyjewska, Ewa E; Jaruga, Anna A; Kandzierski, Grzegorz G; Tylzanowski, Przemko P
Publication Date: 2017-08

Variant appearance in text: RUNX2: 532delC
PubMed Link: 28878609
Variant Present in the following documents:
  • Main text
View BVdb publication page