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Details for PROKR2:c.916G>A, p.Val306Met

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5282925	5302279

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.916G>A

PROTEIN CHANGE

p.Val306Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.386e-05	0.0	2.891e-05	0.0	5.437e-05	0.0	2.637e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.134409	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.916G>A, p.Val306Met

1 disease linked to PROKR2:c.916G>A, p.Val306Met

Normosmic congenital hypogonadotropic hypogonadism

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