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Details for IL17RD:c.1924G>C, p.Ala642Pro

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57131807	57097779

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1924G>C

PROTEIN CHANGE

p.Ala642Pro

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0116	0.0378	0.0115	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003001	0.03596	0.002132	0.005133	0.0	0.0	0.0002143	0.002435	3.621e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.406361	Polymorphism

DBSNP ID

1 combination linked to IL17RD:c.1924G>C, p.Ala642Pro

1 disease linked to IL17RD:c.1924G>C, p.Ala642Pro

Normosmic congenital hypogonadotropic hypogonadism

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