Mutation details:

Protein level identifier (n.a.):

p.Tyr269*

cDNA level identifier (n.a.):

c.807C>A

Gene level identifier:

g.51152C>A

Reference, alternative allele:

C, A

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).