Mutation details:

cDNA level identifier (n.a.):

c.1-763_c.683-650del

Archive identifier/Other designation:

51 kb incl. 5' UTR-ex. 4

Reference, alternative allele:

C+50920, C

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:

4 heterozygous (4 in total).