Mutation details:

Protein level identifier (n.a.):

p.Val339Leufs*6

cDNA level identifier (n.a.):

c.1014delT

Gene level identifier:

g.52518delT

Reference, alternative allele:

CT, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).