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Details for PROKR2:c.743G>A, p.Arg248Gln

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5283098	5302452

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.743G>A

PROTEIN CHANGE

p.Arg248Gln

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
3.182e-05	0.0003076	0.0	0.0	5.437e-05	0.0	0.0	0.0	6.533e-05

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.942609	Polymorphism

DBSNP ID

2 combinations linked to PROKR2:c.743G>A, p.Arg248Gln

OLI1338; OLI833

1 disease linked to PROKR2:c.743G>A, p.Arg248Gln

Kallmann syndrome

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