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Details for DKK1:c.548-4G>T,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
54076310	52316550

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.548-4G>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.004	0.0	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005938	0.0	0.0	0.0	0.006307	4.65e-05	6.165e-05	0.0003269	0.0007533

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.763959	Polymorphism

DBSNP ID

1 combination linked to DKK1:c.548-4G>T,

1 disease linked to DKK1:c.548-4G>T,

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