Mutation details:

Protein level identifier (n.a.):

p.Leu29Glnfs*25

cDNA level identifier (n.a.):

c.67_85dup19

Gene level identifier:

g.288_306dup19

Reference, alternative allele:

C, CAGGCCTCCGCCCCCTTGCC

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).