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Details for RYR3:c.393C>A, p.Asp131Glu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
33825550	33533349

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.393C>A

PROTEIN CHANGE

p.Asp131Glu

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
2.066e-05	0.0	0.0	0.0	0.0	0.0	4.565e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.888451	Disease causing

DBSNP ID

1 combination linked to RYR3:c.393C>A, p.Asp131Glu

1 disease linked to RYR3:c.393C>A, p.Asp131Glu

Primary ovarian failure

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