Mutation details:

Protein level identifier (n.a.):

p.Val482Cysfs*6

cDNA level identifier (n.a.):

c.1442_1443insA

Gene level identifier:

g.73527_73528insA

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:

3 heterozygous (3 in total).