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Details for WDR11:c.1425G>A, p.P475P

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122630812	120871300

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1425G>A

PROTEIN CHANGE

p.P475P

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002752	0.0004307	0.0002602	9.923e-05	0.0	0.003742	0.005125	0.001792	0.0

ESP
AA	EA
0.0006809	0.00314

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Benign	-0.422943	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.1425G>A, p.P475P

1 disease linked to WDR11:c.1425G>A, p.P475P

Kallmann syndrome

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