RUNX2 c.947del ;(p.H316Pfs*168)

Variant ID: 6-45480070-CA-C

NM_001024630.3(RUNX2):c.947del;(p.H316Pfs*168)

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:

Cleidocranial dysplasia syndrome with epilepsy: a case report.

Bmc Pediatrics
Ma, Yimei Y; Zhao, Fumin F; Yu, Dan D
Publication Date: 2019-04-08

Variant appearance in text: RUNX2: 947delA
PubMed Link: 30961565
Variant Present in the following documents:
  • Main text
  • 12887_2019_Article_1472.pdf
View BVdb publication page