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Details for PROKR2:c.1145G>A, p.Arg382Lys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5282696	5302050

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1145G>A

PROTEIN CHANGE

p.Arg382Lys

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
7.978e-06	0.0	0.0	0.0	0.0	0.0	1.769e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.23635	Polymorphism

DBSNP ID

1 combination linked to PROKR2:c.1145G>A, p.Arg382Lys

1 disease linked to PROKR2:c.1145G>A, p.Arg382Lys

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