RYR1 c.3858T>C ;(p.L1286=)

Variant ID: 19-38964109-T-C

NM_000540.2(RYR1):c.3858T>C;(p.L1286=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.

Pharmacogenomics
Isackson, Paul J PJ; Wang, Jianxin J; Zia, Mohammad M; Spurgeon, Paul P; Levesque, Adrian A; Bard, Jonathan J; James, Smitha S; Nowak, Norma N; Lee, Tae Keun TK; Vladutiu, Georgirene D GD
Publication Date: 2018-11

Variant appearance in text: RYR1: L1286L
PubMed Link: 30325262
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs16972636
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RYR1: 3858T>C; Leu1286=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: RYR1: L1286L; rs16972636
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 1
  • srep30457-s2.xls, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: RYR1: L1286L; rs16972636
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page