RYR1 c.6261G>A ;(p.E2087=)

Variant ID: 19-38983263-G-A

NM_000540.2(RYR1):c.6261G>A;(p.E2087=)

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:

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nishimura, Adam A AA; Shirts, Brian H BH; Dorschner, Michael O MO; Amendola, Laura M LM; Smith, Joe W JW; Jarvik, Gail P GP; Tarczy-Hornoch, Peter P
Publication Date: 2015-11

Variant appearance in text: RYR1: 6261G>A
PubMed Link: 25741865
Variant Present in the following documents:
  • Main text
View BVdb publication page