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 KLB:c.820A>G, p.Ile274Val

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
39409389	39407769

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.820A>G

PROTEIN CHANGE

p.Ile274Val

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
5.026e-05	0.0	0.0	0.0	0.0	0.0	1.835e-05	0.0	0.0003549

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.793883	Polymorphism

DBSNP ID

1 combination linked to KLB:c.820A>G, p.Ile274Val

1 disease linked to KLB:c.820A>G, p.Ile274Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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