RUNX2 c.53T>C ;(p.F18S)

Variant ID: 6-45296516-T-C

NM_001024630.3(RUNX2):c.53T>C;(p.F18S)

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:

Amyloid seeding of transthyretin by ex vivo cardiac fibrils and its inhibition.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Saelices, Lorena L; Chung, Kevin K; Lee, Ji H JH; Cohn, Whitaker W; Whitelegge, Julian P JP; Benson, Merrill D MD; Eisenberg, David S DS
Publication Date: 2018-07-17

Variant appearance in text: CCD: F18S
PubMed Link: 29954863
Variant Present in the following documents:
  • Main text
View BVdb publication page