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Details for GNRHR:p.Arg240Gln

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68610309	67744591

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg240Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.0069	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004502	6.16e-05	0.0	0.0	0.004947	9.24e-05	8.821e-05	0.0001633	0.0002614

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.340337	Polymorphism

DBSNP ID

5 combinations linked to GNRHR:p.Arg240Gln

OLI207; OLI851; OLI866; OLI896; OLI902

2 diseases linked to GNRHR:p.Arg240Gln

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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