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Details for POLR3A:c.1787C>T,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
79769417	78009659

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1787C>T

PROTEIN CHANGE

None

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	1.758e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.146184	Disease causing

DBSNP ID

1 combination linked to POLR3A:c.1787C>T,

1 disease linked to POLR3A:c.1787C>T,

Dilated cardiomyopathy

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