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Details for GNRHR:c.350T>G, p.Leu117Arg

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68619704	67753986

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.350T>G

PROTEIN CHANGE

p.Leu117Arg

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.41649	Disease causing

DBSNP ID

1 combination linked to GNRHR:c.350T>G, p.Leu117Arg

1 disease linked to GNRHR:c.350T>G, p.Leu117Arg

Normosmic congenital hypogonadotropic hypogonadism

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