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Details for SPG7:c.2146A>G, p.Lys716Glu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89620936	89554528

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2146A>G

PROTEIN CHANGE

p.Lys716Glu

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
1.218e-05	0.0	0.0	0.0	0.0	0.0	2.676e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.239829	Polymorphism

DBSNP ID

1 combination linked to SPG7:c.2146A>G, p.Lys716Glu

1 disease linked to SPG7:c.2146A>G, p.Lys716Glu

Hereditary spastic paraplegia

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