Mutation details:

Protein level identifier (n.a.):

p.Glu43*

cDNA level identifier (n.a.):

c.127G>T

Gene level identifier:

g.348G>T

Reference, alternative allele:

G, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).