Mutation details:

Protein level identifier (n.a.):

p.Val118Alafs*21

cDNA level identifier (n.a.):

c.343_352dup10

Gene level identifier:

g.564_573dup10

Reference, alternative allele:

G, GCGCGTCCGAG

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).