Mutation details:

Protein level identifier (n.a.):

p.Thr251Asnfs*15

cDNA level identifier (n.a.):

c.751dupA

Gene level identifier:

g.51096dupA

Reference, alternative allele:

A, AA

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).