Details on c.1841G>T

RYR1 variant details of c.1841G>T p.(Arg614Leu)

genomic c.1841G>T
protein p.(Arg614Leu)
exon 17
EMHG classification Pathogenic
EMHG criteria PSb PMb PPa PPb PPc
VCEP classification Pathogenic
VCEP criteria PS3_Mod PS4 PP1_Strong PP3_Mod