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Details for WDR11:c.1592C>G, p.Ser531Cys

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122637900	120878388

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1592C>G

PROTEIN CHANGE

p.Ser531Cys

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
3.981e-05	0.0	2.896e-05	0.0	0.0	0.0	7.043e-05	0.0	3.269e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.832283	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.1592C>G, p.Ser531Cys

1 disease linked to WDR11:c.1592C>G, p.Ser531Cys

Disorder of sex development

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