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Details for NOBOX:c.1067G>A, p.Arg356Gln

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
144096937	144399844

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1067G>A

PROTEIN CHANGE

p.Arg356Gln

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
1.209e-05	0.0	2.908e-05	0.0	0.0	0.0	1.777e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.147146	Polymorphism

DBSNP ID

1 combination linked to NOBOX:c.1067G>A, p.Arg356Gln

1 disease linked to NOBOX:c.1067G>A, p.Arg356Gln

Recurrent implantation failure,Primary infertility

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