Mutation details:

cDNA level identifier (n.a.):

c.1005-1G>C

Gene level identifier:

g.52508G>C

Archive identifier/Other designation:

IVS6-1G>C

Reference, alternative allele:

G, C

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:

3 heterozygous (3 in total).