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Details for WDR11:c.386G>A, p.Arg129His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122619654	120860142

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.386G>A

PROTEIN CHANGE

p.Arg129His

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
1.193e-05	0.0	8.673e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.631139	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.386G>A, p.Arg129His

1 disease linked to WDR11:c.386G>A, p.Arg129His

Normosmic congenital hypogonadotropic hypogonadism

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