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Details for IL23R:c.257G>A,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
67635211	67169528

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.257G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003197	0.0001873	0.0005783	0.0007946	0.0	0.01737	0.003297	0.003441	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.235467	Polymorphism

DBSNP ID

1 combination linked to IL23R:c.257G>A,

1 disease linked to IL23R:c.257G>A,

Primary immunodeficiency

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