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Details for DCAF17:c.1422+3G>A,

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
172336706	171480196

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1422+3G>A

PROTEIN CHANGE

None

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
2.397e-05	0.0	0.0001161	0.0	0.0	0.0	1.769e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.598181	Polymorphism

DBSNP ID

2 combinations linked to DCAF17:c.1422+3G>A,

OLI1547; OLI1575

2 diseases linked to DCAF17:c.1422+3G>A,

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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