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Details for GNRHR:c.416G>A, p.Arg139His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68619638	67753920

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.416G>A

PROTEIN CHANGE

p.Arg139His

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
0.0001435	0.0	0.0001159	0.0	5.44e-05	0.0005553	0.0001678	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.287264	Disease causing

DBSNP ID

1 combination linked to GNRHR:c.416G>A, p.Arg139His

1 disease linked to GNRHR:c.416G>A, p.Arg139His

Kallmann syndrome

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