Mutation details:

Protein level identifier (n.a.):

p.Cys448Serfs*15

cDNA level identifier (n.a.):

c.1341_1342insTC

Gene level identifier:

g.73286_73287insTC

Reference, alternative allele:

G, GTC

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).