Mutation details:

Protein level identifier (n.a.):

p.Glu112*

cDNA level identifier (n.a.):

c.334G>T

Gene level identifier:

g.555G>T

Reference, alternative allele:

G, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

25 heterozygous (25 in total).