Mutation details:

cDNA level identifier (n.a.):

c.1729-2A>T

Gene level identifier:

g.90762A>T

Archive identifier/Other designation:

IVS16-2A>T

Reference, alternative allele:

A, T

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).