Mutation details:

cDNA level identifier (n.a.):

c.1004+2T>G

Gene level identifier:

g.52227T>G

Archive identifier/Other designation:

IVS6+2T>G

Reference, alternative allele:

T, 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:

4 heterozygous (4 in total).