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Details for SOX8:c.1264G>A, p.Gly422Ser

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1035309	985309

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1264G>A

PROTEIN CHANGE

p.Gly422Ser

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
4.327e-05	0.0	2.956e-05	0.0	0.0001718	0.0	0.0	0.0001749	0.0001669

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.523359	Polymorphism

DBSNP ID

1 combination linked to SOX8:c.1264G>A, p.Gly422Ser

1 disease linked to SOX8:c.1264G>A, p.Gly422Ser

46,XY disorder of sex development

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