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Details for IL17RD:c.1690T>G, p.Phe564Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57132041	57098013

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1690T>G

PROTEIN CHANGE

p.Phe564Val

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
3.584e-05	0.0	2.893e-05	0.0	0.0	0.0	7.052e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.811487	Polymorphism

DBSNP ID

1 combination linked to IL17RD:c.1690T>G, p.Phe564Val

1 disease linked to IL17RD:c.1690T>G, p.Phe564Val

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