Mutation details:

Protein level identifier (n.a.):

p.Ala188Profs*8

cDNA level identifier (n.a.):

c.562delG

Gene level identifier:

g.25971delG

Reference, alternative allele:

GG, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).