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Details for KAT6B:c.1754C>T, p.Ala585Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
76735849	74976091

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1754C>T

PROTEIN CHANGE

p.Ala585Val

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
1.591e-05	0.0	5.784e-05	9.927e-05	0.0	0.0	8.797e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.176904	Polymorphism

DBSNP ID

1 combination linked to KAT6B:c.1754C>T, p.Ala585Val

1 disease linked to KAT6B:c.1754C>T, p.Ala585Val

Syndrome with 46,XY disorder of sex development

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