Mutation details:

cDNA level identifier (n.a.):

c.1004+5G>C

Gene level identifier:

g.52230G>C

Archive identifier/Other designation:

IVS6+5G>C

Reference, alternative allele:

G, C

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

20

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).