Mutation details:

Protein level identifier (n.a.):

p.Glu512Glyfs*18

cDNA level identifier (n.a.):

c.1535delA

Gene level identifier:

g.78335delA

Reference, alternative allele:

GA, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).