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Details for GNRH1:c.229C>T, p.Arg77Ter

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
25279109	25421593

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.229C>T

PROTEIN CHANGE

p.Arg77Ter

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
8.053e-06	0.0	0.0	0.0	0.0	0.0	1.779e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.31304	Disease causing

DBSNP ID

1 combination linked to GNRH1:c.229C>T, p.Arg77Ter

1 disease linked to GNRH1:c.229C>T, p.Arg77Ter

Hypogonadotropic hypogonadism with absent puberty phenotype

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