Mutation details:

Protein level identifier (n.a.):

p.Tyr415*

cDNA level identifier (n.a.):

c.1243_1244insA

Gene level identifier:

g.64867_64868insA

Reference, alternative allele:

T, TA

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:

4 heterozygous (4 in total).