Mutation details:

Protein level identifier (n.a.):

p.Leu537Asnfs*3

cDNA level identifier (n.a.):

c.1608_1615delACTTGCTA

Gene level identifier:

g.79797_79804delACTTGCTA

Reference, alternative allele:

AACTTGCTA, 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:

4 heterozygous (4 in total).