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Details for ROBO2:c.2431C>T, p.Arg811Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
77629200	77580049

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2431C>T

PROTEIN CHANGE

p.Arg811Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0092	0.0015	0.062	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.009245	0.001873	0.05976	0.0	0.0	0.001394	0.001038	0.006958	0.0006865

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.293043	None

DBSNP ID

1 combination linked to ROBO2:c.2431C>T, p.Arg811Trp

1 disease linked to ROBO2:c.2431C>T, p.Arg811Trp

Familial bicuspid aortic valve

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