Mutation details:

Protein level identifier (n.a.):

p.Gln141Argfs*19

cDNA level identifier (n.a.):

c.422_425delAGAA

Gene level identifier:

g.23888_23891delAGAA

Reference, alternative allele:

CAGAA, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).