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 KISS1R:c.565G>A, p.Ala189Thr

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
919933	919933

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.565G>A

PROTEIN CHANGE

p.Ala189Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.02	0.0726	0.0043	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004558	0.06748	0.003152	0.0	0.0	0.0003742	0.001112	0.00199	0.0001626

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.91874	Polymorphism

DBSNP ID

2 combinations linked to KISS1R:c.565G>A, p.Ala189Thr

2 diseases linked to KISS1R:c.565G>A, p.Ala189Thr

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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