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Details for IL17RD:c.572C>T, p.Pro191Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57140161	57106133

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.572C>T

PROTEIN CHANGE

p.Pro191Leu

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
0.0001602	0.0	0.0	0.0	0.001472	0.0	9.757e-05	0.0001643	3.294e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.974089	Disease causing

DBSNP ID

2 combinations linked to IL17RD:c.572C>T, p.Pro191Leu

OLI1344; OLI837

2 diseases linked to IL17RD:c.572C>T, p.Pro191Leu

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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