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Details for PROKR2:c.604A>G, p.Ser202Gly

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5283237	5302591

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.604A>G

PROTEIN CHANGE

p.Ser202Gly

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
0.0001789	0.0	2.891e-05	0.0	0.0	0.0	0.000378	0.0001629	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.171574	Polymorphism

DBSNP ID

2 combinations linked to PROKR2:c.604A>G, p.Ser202Gly

1 disease linked to PROKR2:c.604A>G, p.Ser202Gly

Normosmic congenital hypogonadotropic hypogonadism

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