Mutation details:

Protein level identifier (n.a.):

p.Gln490*

cDNA level identifier (n.a.):

c.1468C>T

Gene level identifier:

g.73553C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).