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 PROKR2:c.238C>T, p.Arg80Cys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294778	5314132

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.238C>T

PROTEIN CHANGE

p.Arg80Cys

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
7.953e-06	0.0	2.891e-05	0.0	0.0	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.060931	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.238C>T, p.Arg80Cys

1 disease linked to PROKR2:c.238C>T, p.Arg80Cys

Normosmic congenital hypogonadotropic hypogonadism

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