RUNX2 c.1127T>C ;(p.F376S)

Variant ID: 6-45514603-T-C

NM_001024630.3(RUNX2):c.1127T>C;(p.F376S)

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:

Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies.

Cardiovascular Therapeutics
Amarouch, Mohamed-Yassine MY; El Hilaly, Jaouad J
Publication Date: 2020

Variant appearance in text: CCD: 1127T>C
PubMed Link: 33381229
Variant Present in the following documents:
  • Main text
View BVdb publication page