Mutation details:

cDNA level identifier (n.a.):

c.(1687+1_1688-1)_(*3149_?)del

Archive identifier/Other designation:

Exon 16-17 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:

1 heterozygous (1 in total).