Mutation details:

Protein level identifier (n.a.):

p.Gly546Lysfs*5

cDNA level identifier (n.a.):

c.1635_1636insAA

Gene level identifier:

g.81345_81346insAA

Reference, alternative allele:

A, AAA

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:

4 heterozygous (4 in total).