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Details for WDR11:c.1649T>C, p.Val550Ala

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122637957	120878445

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1649T>C

PROTEIN CHANGE

p.Val550Ala

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
5.576e-05	0.0	0.0003186	0.0	0.0	0.0	2.643e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.265656	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.1649T>C, p.Val550Ala

1 disease linked to WDR11:c.1649T>C, p.Val550Ala

Kallmann syndrome

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