RUNX2 c.1217C>T ;(p.S406L)

Variant ID: 6-45514693-C-T

NM_001024630.3(RUNX2):c.1217C>T;(p.S406L)

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:

Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models.

Plos One
Penttinen, Kirsi K; Swan, Heikki H; Vanninen, Sari S; Paavola, Jere J; Lahtinen, Annukka M AM; Kontula, Kimmo K; Aalto-Setälä, Katriina K
Publication Date: 2015

Variant appearance in text: CCD: S406L
PubMed Link: 25955245
Variant Present in the following documents:
  • Main text
  • pone.0125366.pdf
View BVdb publication page