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Details for IL17RD:c.960G>A, p.Met320Ile

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57136526	57102498

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.960G>A

PROTEIN CHANGE

p.Met320Ile

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
2.839e-05	0.0	2.985e-05	0.0	0.0	0.0	5.358e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.496557	Disease causing

DBSNP ID

1 combination linked to IL17RD:c.960G>A, p.Met320Ile

1 disease linked to IL17RD:c.960G>A, p.Met320Ile

Kallmann syndrome

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