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Details for IL17RD:c.56A>G, p.Asn19Ser

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57199259	57165231

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.56A>G

PROTEIN CHANGE

p.Asn19Ser

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
6.47e-05	0.0	0.0	0.0	0.0	0.0	0.0001841	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.088603	Polymorphism

DBSNP ID

1 combination linked to IL17RD:c.56A>G, p.Asn19Ser

1 disease linked to IL17RD:c.56A>G, p.Asn19Ser

Hypogonadotropic hypogonadism with partial puberty phenotype

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