Mutation details:

cDNA level identifier (n.a.):

c.1687+2T>G

Gene level identifier:

g.81399T>G

Archive identifier/Other designation:

IVS15+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:

1 heterozygous (1 in total).