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Details for PPP1R9B:c.759_767del,

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
48227102	50149737

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GGGCGGCGGC

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.759_767del

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.03009	Polymorphism

DBSNP ID

1 combination linked to PPP1R9B:c.759_767del,

1 disease linked to PPP1R9B:c.759_767del,

Primary immunodeficiency

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