Mutation details:

Protein level identifier (n.a.):

p.Thr550Asnfs*27

cDNA level identifier (n.a.):

c.1646dupT

Gene level identifier:

g.81356dupT

Reference, alternative allele:

T, TT

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).