Mutation details:

cDNA level identifier (n.a.):

c.(1687+1_1688-1)_(1728+1_1729-1)del

Archive identifier/Other designation:

Exon 16 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:

6 heterozygous (6 in total).

×