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Details for UBE3A:

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
25616729	25371582

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0072	0.0	0.006	0.0061

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01169	0.002707	0.005232	0.001985	5.437e-05	0.006931	0.01934	0.01059	0.009146

ESP
AA	EA
0.003177	0.0186

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.053294	Polymorphism

DBSNP ID

4 combinations linked to UBE3A:

OLI477; OLI479; OLI488; OLI495

1 disease linked to UBE3A:

Rare pervasive developmental disorder

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