RYR1 c.12283-1274G>C

Variant ID: 19-39050479-G-C

NM_000540.2(RYR1):c.12283-1274G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12327672
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.

Neurology. Genetics
He, Fang F; Jones, Julie M JM; Figueroa-Romero, Claudia C; Zhang, Dapeng D; Feldman, Eva L EL; Goutman, Stephen A SA; Meisler, Miriam H MH; Callaghan, Brian C BC; Todd, Peter K PK
Publication Date: 2016-06

Variant appearance in text: rs12327672
PubMed Link: 27274540
Variant Present in the following documents:
  • NG2015001800.pdf
View BVdb publication page



A high-density genome-wide association screen of sporadic ALS in US veterans.

Plos One
Kwee, Lydia Coulter LC; Liu, Yutao Y; Haynes, Carol C; Gibson, Jason R JR; Stone, Annjanette A; Schichman, Steven A SA; Kamel, Freya F; Nelson, Lorene M LM; Topol, Barbara B; Van den Eeden, Stephen K SK; Tanner, Caroline M CM; Cudkowicz, Merit E ME; Grasso, Daniela L DL; Lawson, Robert R; Muralidhar, Sumitra S; Oddone, Eugene Z EZ; Schmidt, Silke S; Hauser, Michael A MA
Publication Date: 2012

Variant appearance in text: rs12327672
PubMed Link: 22470424
Variant Present in the following documents:
  • Main text
  • pone.0032768.pdf
View BVdb publication page