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Details for LEPR:c.2246T>C, p.Leu749Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
66083680	65617997

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2246T>C

PROTEIN CHANGE

p.Leu749Ser

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.43439	Polymorphism

DBSNP ID

1 combination linked to LEPR:c.2246T>C, p.Leu749Ser

1 disease linked to LEPR:c.2246T>C, p.Leu749Ser

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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