Mutation details:

Protein level identifier (n.a.):

p.Lys519*

cDNA level identifier (n.a.):

c.1555A>T

Gene level identifier:

g.79744A>T

Reference, alternative allele:

A, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

43

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).