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 PROK2:c.70G>C, p.Ala24Pro

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
71834134	71784983

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.70G>C

PROTEIN CHANGE

p.Ala24Pro

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	0.215773	Disease causing

DBSNP ID

1 combination linked to PROK2:c.70G>C, p.Ala24Pro

2 diseases linked to PROK2:c.70G>C, p.Ala24Pro

Isolated congenital hypogonadotropic hypogonadism; Kallmann syndrome

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