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Details for GPRC6A:c.1391T>A, p.Phe464Tyr

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
117121904	116800741

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1391T>A

PROTEIN CHANGE

p.Phe464Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0046	0.0166	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001089	0.01489	0.0006373	0.0	0.0	0.0	3.526e-05	0.0008199	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.794285	Polymorphism

DBSNP ID

1 combination linked to GPRC6A:c.1391T>A, p.Phe464Tyr

1 disease linked to GPRC6A:c.1391T>A, p.Phe464Tyr

46,XY disorder of sex development

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