Mutation details:

cDNA level identifier (n.a.):

c.1246-4_1246-2delinsCT

Gene level identifier:

g.72949_72951delinsCT

Archive identifier/Other designation:

IVS9-4_2delinsCT

Reference, alternative allele:

TTTA, TCT

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).