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Details for WDR11:c.1175G>A, p.Arg392Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122626261	120866749

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1175G>A

PROTEIN CHANGE

p.Arg392Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.971e-05	0.0	0.0	0.0	0.0	0.0	0.0001057	0.0001629	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.936768	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.1175G>A, p.Arg392Gln

1 disease linked to WDR11:c.1175G>A, p.Arg392Gln

Hypogonadotropic hypogonadism with absent puberty phenotype

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