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Details for GHR:c.1855A>G, p.Lys619Glu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
42719464	42719362

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1855A>G

PROTEIN CHANGE

p.Lys619Glu

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
7.961e-06	0.0	0.0	0.0	0.0001088	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.867574	Polymorphism

DBSNP ID

1 combination linked to GHR:c.1855A>G, p.Lys619Glu

1 disease linked to GHR:c.1855A>G, p.Lys619Glu

Normosmic congenital hypogonadotropic hypogonadism

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