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Details for GNRHR:c.30T>A, p.Asn10Lys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68620024	67754306

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.30T>A

PROTEIN CHANGE

p.Asn10Lys

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
0.0001292	6.464e-05	2.896e-05	9.934e-05	0.0	0.0	0.0002297	0.0004952	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.046613	Disease causing

DBSNP ID

1 combination linked to GNRHR:c.30T>A, p.Asn10Lys

1 disease linked to GNRHR:c.30T>A, p.Asn10Lys

Normosmic congenital hypogonadotropic hypogonadism

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