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Details for IL17RD:p.Ser671Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57131719	57097691

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser671Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.002	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003535	0.0	0.0	0.0	0.003436	0.0	3.726e-05	0.0	0.0006635

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.180279	Disease causing

DBSNP ID

1 combination linked to IL17RD:p.Ser671Leu

1 disease linked to IL17RD:p.Ser671Leu

Kallmann syndrome

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