Mutation details:

Protein level identifier (n.a.):

p.Ala392Leufs*4

cDNA level identifier (n.a.):

c.1174-1_1174delinsCT

Gene level identifier:

g.64797_64798delinsCT

Reference, alternative allele:

AGG, ACT

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:

6 heterozygous (6 in total).