Mutation details:

Protein level identifier (n.a.):

p.Lys151Valfs*9

cDNA level identifier (n.a.):

c.448_451delAAGA

Gene level identifier:

g.23914_23917delAAGA

Reference, alternative allele:

TAAGA, T

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).