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Details for POLR3B:c.2818-2A>T,

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
106890528	106496750

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2818-2A>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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.796e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.782247	Disease causing

DBSNP ID

1 combination linked to POLR3B:c.2818-2A>T,

1 disease linked to POLR3B:c.2818-2A>T,

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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