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Details for EVC:c.1564-6C>T,

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
5785273	5783546

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1564-6C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.005	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003071	0.0	2.892e-05	9.938e-05	0.002392	0.0	5.307e-05	0.0003259	0.0007513

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.229797	Polymorphism

DBSNP ID

1 combination linked to EVC:c.1564-6C>T,

1 disease linked to EVC:c.1564-6C>T,

46,XY disorder of sex development

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