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Details for KLB:c.2959G>A, p.Val987Ile

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
39450130	39448510

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2959G>A

PROTEIN CHANGE

p.Val987Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0	0.0	0.0	0.0102

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.556e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0006206

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.093566	Polymorphism

DBSNP ID

1 combination linked to KLB:c.2959G>A, p.Val987Ile

1 disease linked to KLB:c.2959G>A, p.Val987Ile

Hypogonadotropic hypogonadism with absent puberty phenotype

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