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Details for GBP2:c.412G>A,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
89585878	89120195

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.412G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.0	0.004	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001949	0.0003077	0.0005784	0.0001985	0.0	0.01183	0.001548	0.0006523	0.0008819

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.817867	Polymorphism

DBSNP ID

1 combination linked to GBP2:c.412G>A,

1 disease linked to GBP2:c.412G>A,

Primary immunodeficiency

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