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Details for PDE3A:c.1477G>A, p.Gly493Arg

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
20799762	20646828

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1477G>A

PROTEIN CHANGE

p.Gly493Arg

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
3.982e-06	0.0	0.0	0.0	0.0	0.0	8.815e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.377961	Disease causing

DBSNP ID

1 combination linked to PDE3A:c.1477G>A, p.Gly493Arg

1 disease linked to PDE3A:c.1477G>A, p.Gly493Arg

Normosmic congenital hypogonadotropic hypogonadism

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