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Details for ACE:c.596C>T, p.Pro199Leu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
61557214	63479853

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.596C>T

PROTEIN CHANGE

p.Pro199Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.795e-05	0.0	5.786e-05	0.0	0.0	0.0	7.056e-05	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.558724	Polymorphism

DBSNP ID

1 combination linked to ACE:c.596C>T, p.Pro199Leu

1 disease linked to ACE:c.596C>T, p.Pro199Leu

Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility

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