RUNX2 c.1067T>G ;(p.L356R)

Variant ID: 6-45512999-T-G

NM_001024630.3(RUNX2):c.1067T>G;(p.L356R)

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:

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03

Variant appearance in text: CCD: L356R
PubMed Link: 34862408
Variant Present in the following documents:
  • 41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page


Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03

Variant appearance in text: CCD: L356R
PubMed Link: 34862408
Variant Present in the following documents:
  • 41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page