Mutation details:

Protein level identifier (n.a.):

p.Tyr269*

cDNA level identifier (n.a.):

c.807C>G

Gene level identifier:

g.51152C>G

Reference, alternative allele:

C, G

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:

3 heterozygous (3 in total).