Mutation details:

Protein level identifier (n.a.):

p.Glu418del

cDNA level identifier (n.a.):

c.1251_1253delAGA

Gene level identifier:

g.72958_72960delAGA

Reference, alternative allele:

GAGA, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).