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Details for PROKR2:c.518T>G, p.Leu173Arg

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5283323	5302677

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.518T>G

PROTEIN CHANGE

p.Leu173Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002299	0.0009229	0.002342	0.00625	0.0	4.621e-05	0.003473	0.002282	0.000294

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.714247	Disease causing

DBSNP ID

9 combinations linked to PROKR2:c.518T>G, p.Leu173Arg

OLI1261; OLI1262; OLI1270; OLI1272; OLI1288; OLI1289; OLI1293; OLI1303; OLI1393

3 diseases linked to PROKR2:c.518T>G, p.Leu173Arg

Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype; Kallmann syndrome

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