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Details for SPG7:c.2293G>A, p.Asp765Asn

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89623406	89556998

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2293G>A

PROTEIN CHANGE

p.Asp765Asn

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
1.99e-05	0.0	0.0	0.0	0.0	0.0	4.403e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.56258	Polymorphism

DBSNP ID

1 combination linked to SPG7:c.2293G>A, p.Asp765Asn

1 disease linked to SPG7:c.2293G>A, p.Asp765Asn

Hereditary spastic paraplegia

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