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Details for RYR3:c.592A>G, p.Met198Val

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
33833037	33540836

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.592A>G

PROTEIN CHANGE

p.Met198Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.017e-06	0.0	0.0	0.0	0.0	0.0	8.866e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.073602	Polymorphism

DBSNP ID

1 combination linked to RYR3:c.592A>G, p.Met198Val

1 disease linked to RYR3:c.592A>G, p.Met198Val

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