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Details for AKAP9:c.4826G>A, p.Arg1609Lys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
91670121	92040807

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4826G>A

PROTEIN CHANGE

p.Arg1609Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005134	0.0	0.002027	0.0007943	0.0	9.243e-05	0.0002817	0.002445	6.535e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.000608	Polymorphism

DBSNP ID

1 combination linked to AKAP9:c.4826G>A, p.Arg1609Lys

1 disease linked to AKAP9:c.4826G>A, p.Arg1609Lys

Sudden infant death syndrome

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