Mutation details:

cDNA level identifier (n.a.):

c.(1728+1_1729-1)_(*3149_?)del

Archive identifier/Other designation:

Exon 17 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:

17 heterozygous (17 in total).

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