Mutation details:

Protein level identifier (n.a.):

p.Phe404del

cDNA level identifier (n.a.):

c.1210_1212delTTT

Gene level identifier:

g.64834_64836delTTT

Reference, alternative allele:

CTTT, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).