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Details for CARD9:c.1434+1G>C,

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
139259592	136365140

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1434+1G>C

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003272	0.0004992	0.001246	0.007217	0.000164	0.0009261	0.005366	0.00247	0.001634

ESP
AA	EA
0.0009079	0.007907

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.951732	Disease causing

DBSNP ID

1 combination linked to CARD9:c.1434+1G>C,

1 disease linked to CARD9:c.1434+1G>C,

Primary immunodeficiency

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