Mutation details:

Protein level identifier (n.a.):

p.Ala95Alafs*27

cDNA level identifier (n.a.):

c.283_323del41

Gene level identifier:

g.504_544del41

Reference, alternative allele:

GGCCGCGCCAGCACCTGCCTCGGCCTCGGCCCCGGCGCCGGT, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).