Mutation details:

Protein level identifier (n.a.):

p.Asn405lysfs*36

cDNA level identifier (n.a.):

c.1215_1219delTATAA

Gene level identifier:

g.64839_64843delTATAA

Reference, alternative allele:

ATATAA, A

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).