Mutation details:

cDNA level identifier (n.a.):

c.1246-2896_1493+523dup

Gene level identifier:

g.70057_74101dup

Archive identifier/Other designation:

Exon 10-12 duplication

Reference, alternative allele:

T, T+4044

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:

22 heterozygous (22 in total).