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Details for GNRH1:c.141G>C, p.Glu47Asp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
25280706	25423190

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.141G>C

PROTEIN CHANGE

p.Glu47Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001528	0.0001938	0.001566	0.0	0.0	0.0001393	0.002122	0.003138	0.002026

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	4.485816	Polymorphism

DBSNP ID

1 combination linked to GNRH1:c.141G>C, p.Glu47Asp

1 disease linked to GNRH1:c.141G>C, p.Glu47Asp

Normosmic congenital hypogonadotropic hypogonadism

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