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Details for KLB:c.3032T>C, p.Leu1011Pro

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
39450203	39448583

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.3032T>C

PROTEIN CHANGE

p.Leu1011Pro

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
4.376e-05	0.0	0.0	0.0008932	0.0	0.0	8.796e-06	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.500975	Disease causing

DBSNP ID

1 combination linked to KLB:c.3032T>C, p.Leu1011Pro

1 disease linked to KLB:c.3032T>C, p.Leu1011Pro

Hypogonadotropic hypogonadism with partial puberty phenotype

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