Mutation details:

cDNA level identifier (n.a.):

c.1494-2A>G

Gene level identifier:

g.78292G>A

Archive identifier/Other designation:

IVS12-2A>G

Reference, alternative allele:

A, G

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).