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Details for PROKR2:c.472G>A, p.Val158Ile

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5283369	5302723

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.472G>A

PROTEIN CHANGE

p.Val158Ile

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
0.0001197	0.0	8.674e-05	0.0	0.0	0.0	9.716e-05	0.0	0.0005226

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.859768	Disease causing

DBSNP ID

2 combinations linked to PROKR2:c.472G>A, p.Val158Ile

OLI1276; OLI1278

1 disease linked to PROKR2:c.472G>A, p.Val158Ile

Normosmic congenital hypogonadotropic hypogonadism

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