Mutation details:

Protein level identifier (n.a.):

p.Tyr544Profs*28

cDNA level identifier (n.a.):

c.1630_1643del14

Gene level identifier:

g.81340_81353del14

Reference, alternative allele:

ATACTCAGGAAGTGA, 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).