Mutation details:

Protein level identifier (n.a.):

p.Leu426Phefs*16

cDNA level identifier (n.a.):

c.1276_1277delCT

Gene level identifier:

g.72983_72984delCT

Reference, alternative allele:

TCT, T

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:

2 heterozygous (2 in total).