Mutation details:

cDNA level identifier (n.a.):

c.1098+1G>C

Gene level identifier:

g.52603G>C

Archive identifier/Other designation:

IVS7+1G>C

Reference, alternative allele:

G, C

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).