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RYR1 c.7073T>C ;(p.I2358T)
Variant ID: 19-38990320-T-C
NM_000540.2(
RYR1
):c.7073T>C;(p.I2358T)
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:
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Scientific Reports
Hoppe, Kerstin K; Jurkat-Rott, Karin K; Kranepuhl, Stefanie S; Wearing, Scott S; Heiderich, Sebastian S; Merlak, Sonja S; Klingler, Werner W
Publication Date: 2021-02-09
Variant appearance in text: MHS: I2358T
PubMed Link:
33564012
Variant Present in the following documents:
Main text
41598_2021_Article_82024.pdf
View BVdb publication page