Mutation details:

cDNA level identifier (n.a.):

c.1004+3A>C

Gene level identifier:

g.52228A>C

Archive identifier/Other designation:

IVS6+3A>C

Reference, alternative allele:

A, C

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).