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Details for IL17RD:c.1972A>G, p.Met658Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57131759	57097731

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1972A>G

PROTEIN CHANGE

p.Met658Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0032	0.0	0.0	0.0139	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001062	0.0	2.996e-05	0.0	0.01352	0.0	0.0	0.0001732	0.0002812

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.338598	Polymorphism

DBSNP ID

1 combination linked to IL17RD:c.1972A>G, p.Met658Val

1 disease linked to IL17RD:c.1972A>G, p.Met658Val

Kallmann syndrome

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