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Details for GHR:c.1516G>A, p.Val506Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
42719104	42719002

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1516G>A

PROTEIN CHANGE

p.Val506Met

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
8.059e-06	0.0	0.0	0.0	0.0	0.0	8.887e-06	0.0001651	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.765755	Polymorphism

DBSNP ID

1 combination linked to GHR:c.1516G>A, p.Val506Met

1 disease linked to GHR:c.1516G>A, p.Val506Met

46,XY disorder of sex development

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