This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for POLR3A:c.397G>A, p.Gly133Ser

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
79784822	78025064

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.397G>A

PROTEIN CHANGE

p.Gly133Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.568e-05	0.0006152	2.891e-05	0.0	0.0	0.0	1.758e-05	0.0	3.266e-05

ESP
AA	EA
0.0006809	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.342136	Polymorphism

DBSNP ID

1 combination linked to POLR3A:c.397G>A, p.Gly133Ser

1 disease linked to POLR3A:c.397G>A, p.Gly133Ser

Congenital hypogonadotropic hypogonadism

Found any issues with the data on this page? Report this entry.