RYR1 c.13806A>C ;(p.S4602=)

Variant ID: 19-39062718-A-C

NM_000540.2(RYR1):c.13806A>C;(p.S4602=)

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:

Landscape of adenosine-to-inosine RNA recoding across human tissues.

Nature Communications
Gabay, Orshay O; Shoshan, Yoav Y; Kopel, Eli E; Ben-Zvi, Udi U; Mann, Tomer D TD; Bressler, Noam N; Cohen-Fultheim, Roni R; Schaffer, Amos A AA; Roth, Shalom Hillel SH; Tzur, Ziv Z; Levanon, Erez Y EY; Eisenberg, Eli E
Publication Date: 2022-03-04

Variant appearance in text: RYR1: S4602S
PubMed Link: 35246538
Variant Present in the following documents:
  • 41467_2022_28841_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page