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Details for KLB:c.926G>A, p.Arg309Gln

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
39435930	39434310

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.926G>A

PROTEIN CHANGE

p.Arg309Gln

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
7.954e-06	0.0	0.0	0.0	0.0	0.0	8.793e-06	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.879901	Disease causing

DBSNP ID

1 combination linked to KLB:c.926G>A, p.Arg309Gln

1 disease linked to KLB:c.926G>A, p.Arg309Gln

Hypogonadotropic hypogonadism with partial puberty phenotype

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