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Details for SEMA7A:c.1462G>C, p.Val488Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74704012	74411671

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1462G>C

PROTEIN CHANGE

p.Val488Leu

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
4e-06	0.0	0.0	0.0	0.0	0.0	8.866e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.757474	Polymorphism

DBSNP ID

1 combination linked to SEMA7A:c.1462G>C, p.Val488Leu

1 disease linked to SEMA7A:c.1462G>C, p.Val488Leu

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