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Details for IL17RD:c.1136A>G, p.Tyr379Cys

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57135235	57101207

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1136A>G

PROTEIN CHANGE

p.Tyr379Cys

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
9.573e-05	0.0	2.894e-05	0.0	0.0	0.0003237	0.0001326	0.0	3.271e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.675698	Disease causing

DBSNP ID

2 combinations linked to IL17RD:c.1136A>G, p.Tyr379Cys

OLI1594; OLI365

1 disease linked to IL17RD:c.1136A>G, p.Tyr379Cys

Kallmann syndrome

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