Mutation details:

Protein level identifier (n.a.):

p.Asn244Ilefs*22

cDNA level identifier (n.a.):

c.730_731insT

Gene level identifier:

g.51075_51076insT

Reference, alternative allele:

A, AT

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 compound heterozygous (4 in total).