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Details for RYR3:c.2486G>A, p.Arg829His

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
33916136	33623935

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2486G>A

PROTEIN CHANGE

p.Arg829His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00114	0.0001937	0.002028	9.936e-05	5.564e-05	0.0002784	0.001631	0.002149	0.0001961

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.277802	Polymorphism

DBSNP ID

1 combination linked to RYR3:c.2486G>A, p.Arg829His

1 disease linked to RYR3:c.2486G>A, p.Arg829His

Rare pervasive developmental disorder

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