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.337T>C, p.Tyr113His

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294679	5314033

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.337T>C

PROTEIN CHANGE

p.Tyr113His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001153	0.0	0.0	0.0	0.001468	0.0	8.791e-06	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.49327	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.337T>C, p.Tyr113His

1 disease linked to PROKR2:c.337T>C, p.Tyr113His

Kallmann syndrome

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