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Details for LEPR:c.371A>G, p.Asp124Gly

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
66038009	65572326

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.371A>G

PROTEIN CHANGE

p.Asp124Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0061	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004666	0.005894	0.0002299	0.0	0.0	0.0	0.0	0.0	0.000101

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.381766	Polymorphism

DBSNP ID

1 combination linked to LEPR:c.371A>G, p.Asp124Gly

1 disease linked to LEPR:c.371A>G, p.Asp124Gly

Hypogonadotropic hypogonadism with absent puberty phenotype

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