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Details for PROKR2:c.254G>A, p.Arg85His

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294762	5314116

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.254G>A

PROTEIN CHANGE

p.Arg85His

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
0.0007118	0.0002461	0.0002891	0.0	0.0001087	0.0005543	0.001195	0.0008143	0.0003266

ESP
AA	EA
0.0004539	0.001628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.036241	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.254G>A, p.Arg85His

1 disease linked to PROKR2:c.254G>A, p.Arg85His

Kallmann syndrome

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