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Details for SLIT1:c.4020A>C, p.Glu1340Asp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
98762595	97002838

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4020A>C

PROTEIN CHANGE

p.Glu1340Asp

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
0.002267	0.009007	0.0005219	0.0007968	0.00126	0.005141	0.002193	0.002804	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.304754	Polymorphism

DBSNP ID

1 combination linked to SLIT1:c.4020A>C, p.Glu1340Asp

1 disease linked to SLIT1:c.4020A>C, p.Glu1340Asp

Familial bicuspid aortic valve

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