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Details for IL17RD:c.2204C>T, p.Ala735Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57130437	57096409

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2204C>T

PROTEIN CHANGE

p.Ala735Val

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
3.583e-05	0.0	0.0	9.93e-05	0.0	0.0	6.168e-05	0.0001631	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.725229	Disease causing

DBSNP ID

1 combination linked to IL17RD:c.2204C>T, p.Ala735Val

1 disease linked to IL17RD:c.2204C>T, p.Ala735Val

Kallmann syndrome

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