Mutation details:

cDNA level identifier (n.a.):

c.1245+3insT

Gene level identifier:

g.64872_64873insT

Archive identifier/Other designation:

IVS9+3insT

Reference, alternative allele:

G, GT

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).