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Details for GPRC6A:c.1528A>C, p.Asn510His

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
117121767	116800604

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1528A>C

PROTEIN CHANGE

p.Asn510His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0045	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005136	0.003384	0.0008394	0.0	0.0	0.0	0.000317	0.001472	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.727098	Polymorphism

DBSNP ID

3 combinations linked to GPRC6A:c.1528A>C, p.Asn510His

OLI1526; OLI1558; OLI1563

2 diseases linked to GPRC6A:c.1528A>C, p.Asn510His

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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