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Details for WDR11:c.1342C>T, p.Arg448Trp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122630729	120871217

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1342C>T

PROTEIN CHANGE

p.Arg448Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.943e-05	0.0006767	2.892e-05	0.0	5.438e-05	0.0	7.912e-05	0.0003261	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.245078	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.1342C>T, p.Arg448Trp

1 disease linked to WDR11:c.1342C>T, p.Arg448Trp

Normosmic congenital hypogonadotropic hypogonadism

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