Mutation details:

Protein level identifier (n.a.):

p.Lys236Profs*6

cDNA level identifier (n.a.):

c.706_710delAAAGA

Gene level identifier:

g.51051_51055delAAAGA

Reference, alternative allele:

AAAAGA, A

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:

3 heterozygous (3 in total).