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Details for DOCK8:c.1139T>C, p.Ile380Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
334238	334238

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1139T>C

PROTEIN CHANGE

p.Ile380Thr

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
1.99e-05	0.0	0.0	0.0	0.0	0.0	4.401e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.463906	Polymorphism

DBSNP ID

1 combination linked to DOCK8:c.1139T>C, p.Ile380Thr

1 disease linked to DOCK8:c.1139T>C, p.Ile380Thr

Disorder of sex development

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