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Details for WDR11:c.2146A>G, p.Ile716Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122648614	120889102

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2146A>G

PROTEIN CHANGE

p.Ile716Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.628585	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.2146A>G, p.Ile716Val

1 disease linked to WDR11:c.2146A>G, p.Ile716Val

Kallmann syndrome

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