Mutation details:

cDNA level identifier (n.a.):

c.1098+1_1098+2delinsCTCAGA

Gene level identifier:

g.52603_52604delinsCTCAGA

Archive identifier/Other designation:

IVS7+1_2delinsCTCAGA

Reference, alternative allele:

GGT, GCTCAGA

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).