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Details for PIK3CD:p.Arg408Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
9780045	9719987

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg408Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001711	0.0001846	0.0	0.0	0.001849	0.0	0.0	0.0	0.000196

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.296375	Polymorphism

DBSNP ID

1 combination linked to PIK3CD:p.Arg408Cys

1 disease linked to PIK3CD:p.Arg408Cys

Common variable immunodeficiency

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