RYR1 c.1467C>T ;(p.C489=)

Variant ID: 19-38945901-C-T

NM_000540.2(RYR1):c.1467C>T;(p.C489=)

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:

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.

Neuromuscular Disorders : Nmd
Olby, Natasha J NJ; Friedenberg, Steven S; Meurs, Kathryn K; DeProspero, Dylan D; Guevar, Julien J; Lau, Jeanie J; Yost, Oriana O; Guo, Ling T LT; Shelton, G Diane GD
Publication Date: 2020-05

Variant appearance in text: RYR1: 1467C>T
PubMed Link: 32417001
Variant Present in the following documents:
  • Main text
View BVdb publication page