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Details for GNRHR:p.Thr269Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68606379	67740661

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr269Met

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
1.194e-05	0.0	0.0	0.0	5.437e-05	0.0	1.762e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.433714	Disease causing

DBSNP ID

1 combination linked to GNRHR:p.Thr269Met

1 disease linked to GNRHR:p.Thr269Met

Normosmic congenital hypogonadotropic hypogonadism

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