Mutation details:

Protein level identifier (n.a.):

p.Arg562*

cDNA level identifier (n.a.):

c.1684C>T

Gene level identifier:

g.81394C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

30 heterozygous (30 in total).