MYL2 c.64G>C ;(p.E22Q)

Variant ID: 12-111356937-C-G

NM_000432.3(MYL2):c.64G>C;(p.E22Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Fast searches of large collections of single-cell data using scfind.

Nature Methods
Lee, Jimmy Tsz Hang JTH; Patikas, Nikolaos N; Kiselev, Vladimir Yu VY; Hemberg, Martin M
Publication Date: 2021-03

Variant appearance in text: rs104894368
PubMed Link: 33649586
Variant Present in the following documents:
  • Main text
  • EMS114922.pdf
View BVdb publication page



Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH
Publication Date: 2020-11

Variant appearance in text: rs104894368
PubMed Link: 32665702
Variant Present in the following documents:
  • Main text
View BVdb publication page