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Details for IL17RD:c.2009C>T, p.Pro670Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57131722	57097694

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2009C>T

PROTEIN CHANGE

p.Pro670Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005814	0.000205	9.061e-05	0.0	0.0008456	0.0004339	0.0009329	0.001384	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.197439	Disease causing

DBSNP ID

1 combination linked to IL17RD:c.2009C>T, p.Pro670Leu

1 disease linked to IL17RD:c.2009C>T, p.Pro670Leu

Hypogonadotropic hypogonadism with absent puberty phenotype

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