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Details for WDR11:c.3571G>A, p.Gly1191Ser

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122668121	120908609

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3571G>A

PROTEIN CHANGE

p.Gly1191Ser

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
0.0001471	0.0	0.0001735	0.001389	5.437e-05	0.0	0.0001318	0.0001629	0.0

ESP
AA	EA
0.0	0.0004651

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.074427	Disease causing

DBSNP ID

1 combination linked to WDR11:c.3571G>A, p.Gly1191Ser

1 disease linked to WDR11:c.3571G>A, p.Gly1191Ser

Disorder of sex development

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