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Details for SPG7:c.1796G>T, p.Arg599Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89619403	89552995

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1796G>T

PROTEIN CHANGE

p.Arg599Leu

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
3.585e-05	0.0	0.0	0.0	0.0	0.0	6.174e-05	0.0003265	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.651709	Disease causing

DBSNP ID

1 combination linked to SPG7:c.1796G>T, p.Arg599Leu

1 disease linked to SPG7:c.1796G>T, p.Arg599Leu

Hereditary spastic paraplegia

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