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Details for KAT6B:c.4822A>G, p.Asn1608Asp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
76789953	75030195

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4822A>G

PROTEIN CHANGE

p.Asn1608Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.795e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.862793	Polymorphism

DBSNP ID

1 combination linked to KAT6B:c.4822A>G, p.Asn1608Asp

1 disease linked to KAT6B:c.4822A>G, p.Asn1608Asp

Syndrome with 46,XY disorder of sex development

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