Mutation details:

Protein level identifier (n.a.):

p.Pro105Glyfs*28

cDNA level identifier (n.a.):

c.313_320delCCGGCGCC

Gene level identifier:

g.534_541delCCGGCGCC

Reference, alternative allele:

CCCGGCGCC, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).