Mutation details:

Protein level identifier (n.a.):

p.Asp313Argfs*6

cDNA level identifier (n.a.):

c.936dupA

Gene level identifier:

g.52157dupA

Reference, alternative allele:

A, AA

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).