Mutation details:

Protein level identifier (n.a.):

p.Arg556Glyfs*20

cDNA level identifier (n.a.):

c.1667_1668delCA

Gene level identifier:

g.81377_81378delCA

Reference, alternative allele:

GCA, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).