Mutation details:

Protein level identifier (n.a.):

p.Lys393_Ala396del

cDNA level identifier (n.a.):

c.1177_1188del12

Gene level identifier:

g.64801_64812del12

Reference, alternative allele:

TAAAGCAGTAGCT, T

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).