Mutation details:

Protein level identifier (n.a.):

p.Gly419*

cDNA level identifier (n.a.):

c.1255G>T

Gene level identifier:

g.72962G>T

Reference, alternative allele:

G, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

41

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).