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Details for WDR11:c.1306A>G, p.Ile436Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122630693	120871181

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1306A>G

PROTEIN CHANGE

p.Ile436Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0045	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00103	0.002338	0.0001157	0.01845	0.0	0.0	0.0001934	0.001304	3.266e-05

ESP
AA	EA
0.001816	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.080061	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.1306A>G, p.Ile436Val

1 disease linked to WDR11:c.1306A>G, p.Ile436Val

Pituitary stalk interruption syndrome

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