Mutation details:

Protein level identifier (n.a.):

p.Trp607*

cDNA level identifier (n.a.):

c.1821G>A

Gene level identifier:

g.90856G>A

Reference, alternative allele:

G, A

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).