Mutation details:

Protein level identifier (n.a.):

p.Phe427Leufs*11

cDNA level identifier (n.a.):

c.1281delT

Gene level identifier:

g.72988delT

Reference, alternative allele:

TT, T

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

19 heterozygous (19 in total).