Mutation details:

Protein level identifier (n.a.):

p.Thr305_Thr308delinsProIleAlaLeu

cDNA level identifier (n.a.):

c.913_923delins11

Gene level identifier:

g.52134_52144delins11

Reference, alternative allele:

TACAACTGCTAC, TCCAATTGCACT

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).