Mutation details:

Protein level identifier (n.a.):

p.Gly453dup

cDNA level identifier (n.a.):

c.1358_1360dupGGG

Gene level identifier:

g.73303_73305dupGGG

Reference, alternative allele:

G, GGGG

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).