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Details for SOX8:c.1144G>A, p.Asp382Asn

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1035189	985189

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1144G>A

PROTEIN CHANGE

p.Asp382Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000645	0.0003386	0.000966	0.0	0.0	4.798e-05	0.001045	0.0003391	9.861e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.375991	Disease causing

DBSNP ID

1 combination linked to SOX8:c.1144G>A, p.Asp382Asn

1 disease linked to SOX8:c.1144G>A, p.Asp382Asn

Syndrome with 46,XY disorder of sex development

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