Mutation details:

Protein level identifier (n.a.):

p.Tyr505*

cDNA level identifier (n.a.):

c.1512_1514dupATA

Gene level identifier:

g.78312_78314dupATA

Reference, alternative allele:

A, AATA

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).