Mutation details:

cDNA level identifier (n.a.):

c.(586+1_587-1)_(1245+1_1246-1)del

Archive identifier/Other designation:

Exon 4-9 deletion

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).