Details on c.7304G>T

RYR1 variant details of c.7304G>T p.(Arg2435Leu)

genomic c.7304G>T
protein p.(Arg2435Leu)
exon 45
EMHG classification Likely pathogenic
EMHG criteria PMb PPb PPc
VCEP classification Likely Pathogenic
VCEP criteria PS4_Mod PM1_Sup PM5 PP3_Mod