Mutation details:

Protein level identifier (n.a.):

p.Gly476Argfs*2

cDNA level identifier (n.a.):

c.1426_1427delGG

Gene level identifier:

g.73511_73512delGG

Reference, alternative allele:

TGG, T

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).