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Details for IL12RB1:c.1619,

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
18173093	18062283

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1619

PROTEIN CHANGE

None

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
7.762e-05	0.0	0.0002071	0.0001022	0.0	0.0	9.899e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.026219	Polymorphism

DBSNP ID

1 combination linked to IL12RB1:c.1619,

1 disease linked to IL12RB1:c.1619,

Primary immunodeficiency

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