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Details for ZCWPW1:c.1049A>G,

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
100004867	100407244

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1049A>G

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002178	0.0003232	0.0005217	0.001988	0.0	0.01152	0.002007	0.002476	0.000327

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.201046	Polymorphism

DBSNP ID

1 combination linked to ZCWPW1:c.1049A>G,

1 disease linked to ZCWPW1:c.1049A>G,

Primary immunodeficiency

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