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Details for GHR:c.497G>A, p.Gly166Glu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
42699983	42699881

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.497G>A

PROTEIN CHANGE

p.Gly166Glu

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
1.992e-05	0.0	0.0	0.0	0.0002175	0.0	0.0	0.0001634	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.497423	Disease causing

DBSNP ID

1 combination linked to GHR:c.497G>A, p.Gly166Glu

1 disease linked to GHR:c.497G>A, p.Gly166Glu

Normosmic congenital hypogonadotropic hypogonadism

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