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Details for SLIT1:c.446C>T, p.Pro149Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
98825811	97066054

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.446C>T

PROTEIN CHANGE

p.Pro149Leu

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.408516	Disease causing

DBSNP ID

1 combination linked to SLIT1:c.446C>T, p.Pro149Leu

1 disease linked to SLIT1:c.446C>T, p.Pro149Leu

Familial bicuspid aortic valve

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