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Details for CYP17A1:c.1487G>A, p.Arg496His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
104590499	102830742

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1487G>A

PROTEIN CHANGE

p.Arg496His

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
8.281e-06	0.0	0.0	0.0	5.554e-05	0.0	9.203e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.185621	Disease causing

DBSNP ID

1 combination linked to CYP17A1:c.1487G>A, p.Arg496His

1 disease linked to CYP17A1:c.1487G>A, p.Arg496His

Recurrent implantation failure,Primary infertility

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