RYR1 c.416A>G ;(p.D139G)

Variant ID: 19-38934428-A-G

NM_000540.2(RYR1):c.416A>G;(p.D139G)

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:

PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics
Alvarellos, Maria L ML; McDonagh, Ellen M EM; Patel, Sephalie S; McLeod, Howard L HL; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2015-12

Variant appearance in text: RYR1: Asp139Gly
PubMed Link: 26398623
Variant Present in the following documents:
  • Main text
View BVdb publication page