Mutation details:

Protein level identifier (n.a.):

p.Leu195Argfs*18

cDNA level identifier (n.a.):

c.584_585delTA

Gene level identifier:

g.25993_25994delTA

Reference, alternative allele:

CTA, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).