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Details for NFKB1:p.Arg533His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
103518782	102597625

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg533His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005344	0.0001231	0.0001455	0.004174	0.00261	4.628e-05	0.0002909	0.0001638	6.554e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.654736	Polymorphism

DBSNP ID

1 combination linked to NFKB1:p.Arg533His

1 disease linked to NFKB1:p.Arg533His

Common variable immunodeficiency

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