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Details for ACE:c.1739C>A, p.Pro580His

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
61561720	63484359

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1739C>A

PROTEIN CHANGE

p.Pro580His

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.520342	Polymorphism

DBSNP ID

1 combination linked to ACE:c.1739C>A, p.Pro580His

1 disease linked to ACE:c.1739C>A, p.Pro580His

Recurrent implantation failure,Primary infertility

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