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Details for IL17RD:c.2068T>A, p.Ser690Thr

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57131663	57097635

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2068T>A

PROTEIN CHANGE

p.Ser690Thr

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
2.758e-05	7.708e-05	0.0	0.0	0.0	0.0	5.164e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.994669	Polymorphism

DBSNP ID

1 combination linked to IL17RD:c.2068T>A, p.Ser690Thr

1 disease linked to IL17RD:c.2068T>A, p.Ser690Thr

Normosmic congenital hypogonadotropic hypogonadism

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