Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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