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Details for RYR2:c.9569G>A, p.Arg3190Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
237868632	237705332

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.9569G>A

PROTEIN CHANGE

p.Arg3190Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.405e-05	0.0	3.036e-05	0.0	0.0	0.0	6.642e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.897926	Polymorphism

DBSNP ID

1 combination linked to RYR2:c.9569G>A, p.Arg3190Gln

1 disease linked to RYR2:c.9569G>A, p.Arg3190Gln

Rare pervasive developmental disorder

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