Mutation details:

Protein level identifier (n.a.):

p.Gly283Ilefs*9

cDNA level identifier (n.a.):

c.843_846dupATCT

Gene level identifier:

g.51188_51191dupATCT

Reference, alternative allele:

T, TATCT

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).