Mutation details:

Protein level identifier (n.a.):

p.Cys171*

cDNA level identifier (n.a.):

c.513_514delTG

Gene level identifier:

g.25922_25923delTG

Archive identifier/Other designation:

c. 513_514delTG

Reference, alternative allele:

GTG, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).