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Details for GHR:c.1007A>G, p.His336Arg

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
42718595	42718493

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1007A>G

PROTEIN CHANGE

p.His336Arg

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
1.595e-05	0.0001251	5.783e-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	Possibly Damaging	2.657069	Polymorphism

DBSNP ID

1 combination linked to GHR:c.1007A>G, p.His336Arg

1 disease linked to GHR:c.1007A>G, p.His336Arg

46,XY disorder of sex development

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