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Details for WDR11:c.2962G>A, p.Glu988Lys

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122663589	120904077

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2962G>A

PROTEIN CHANGE

p.Glu988Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001805	0.0006784	0.001274	0.0007951	5.438e-05	0.0009728	0.003014	0.001469	0.0005558

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.382236	Disease causing

DBSNP ID

1 combination linked to WDR11:c.2962G>A, p.Glu988Lys

1 disease linked to WDR11:c.2962G>A, p.Glu988Lys

Normosmic congenital hypogonadotropic hypogonadism

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