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Details for PRKD1:c.646C>G, p.Arg216Gly

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
30132955	29663749

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.646C>G

PROTEIN CHANGE

p.Arg216Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002346	0.0	0.0	9.923e-05	0.0	0.0	2.638e-05	0.0001629	0.001764

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.029311	Disease causing

DBSNP ID

1 combination linked to PRKD1:c.646C>G, p.Arg216Gly

1 disease linked to PRKD1:c.646C>G, p.Arg216Gly

Normosmic congenital hypogonadotropic hypogonadism

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