Mutation details:

Protein level identifier (n.a.):

p.Gln280Argfs*10

cDNA level identifier (n.a.):

c.839_840delAG

Gene level identifier:

g.51184_51185delAG

Reference, alternative allele:

CAG, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).