Mutation details:

Protein level identifier (n.a.):

p.Leu521Tyrfs*8

cDNA level identifier (n.a.):

c.1560_1563delTCTG

Gene level identifier:

g.79749_79752delTCTG

Reference, alternative allele:

ATCTG, A

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:

5 heterozygous (5 in total).