Mutation details:

cDNA level identifier (n.a.):

c.1728+1G>T

Gene level identifier:

g.83649G>T

Archive identifier/Other designation:

IVS16+1G>T

Reference, alternative allele:

G, T

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).