Mutation details:

cDNA level identifier (n.a.):

c.(?_-221)_(415+1_416-1)dup

Archive identifier/Other designation:

Exon 1 duplication

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:

2 heterozygous (2 in total).