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Details for ROBO4:c.908C>A, p.Ala303Asp

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
124765481	124895585

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.908C>A

PROTEIN CHANGE

p.Ala303Asp

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.150542	Polymorphism

DBSNP ID

1 combination linked to ROBO4:c.908C>A, p.Ala303Asp

1 disease linked to ROBO4:c.908C>A, p.Ala303Asp

Familial bicuspid aortic valve

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