RYR1 c.9385C>G ;(p.L3129V)

Variant ID: 19-39003036-C-G

NM_000540.2(RYR1):c.9385C>G;(p.L3129V)

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:

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.

Case Reports In Neurology
Peddareddygari, Leema Reddy LR; Oberoi, Kinsi K; Grewal, Raji P RP
Publication Date: 2018

Variant appearance in text: rs143445685
PubMed Link: 30323756
Variant Present in the following documents:
  • Main text
  • crn-0010-0272.pdf
View BVdb publication page