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Details for POLR3A:c.2686G>A, p.Asp896Asn

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
79753056	77993298

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2686G>A

PROTEIN CHANGE

p.Asp896Asn

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
2.388e-05	6.152e-05	0.0	0.0	0.0	0.0	8.804e-06	0.0	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.904986	Disease causing

DBSNP ID

1 combination linked to POLR3A:c.2686G>A, p.Asp896Asn

1 disease linked to POLR3A:c.2686G>A, p.Asp896Asn

Normosmic congenital hypogonadotropic hypogonadism

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