This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SPG7:c.1529C>T, p.Ala510Val

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89613145	89546737

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1529C>T

PROTEIN CHANGE

p.Ala510Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0008	0.0029	0.0	0.005	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002923	0.00123	0.002081	0.001885	0.0	0.001063	0.004949	0.002443	0.0007512

ESP
AA	EA
0.001365	0.004535

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.011623	Disease causing

DBSNP ID

3 combinations linked to SPG7:c.1529C>T, p.Ala510Val

OLI1147; OLI1148; OLI1152

1 disease linked to SPG7:c.1529C>T, p.Ala510Val

Hereditary spastic paraplegia

Found any issues with the data on this page? Report this entry.