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Details for GNRHR:c.247C>G, p.Leu83Val

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68619807	67754089

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.247C>G

PROTEIN CHANGE

p.Leu83Val

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
3.979e-06	0.0	2.891e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.783562	Disease causing

DBSNP ID

1 combination linked to GNRHR:c.247C>G, p.Leu83Val

2 diseases linked to GNRHR:c.247C>G, p.Leu83Val

Normosmic congenital hypogonadotropic hypogonadism; Isolated congenital hypogonadotropic hypogonadism

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