Mutation details:

cDNA level identifier (n.a.):

c.(1493+1_1494-1)_(1536+1_1537-1)del

Archive identifier/Other designation:

Exon 13 deletion

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).