Mutation details:

Protein level identifier (n.a.):

p.Val480Alafs*6

cDNA level identifier (n.a.):

c.1439_1445delinsC

Gene level identifier:

g.73524_73530delinsC

Reference, alternative allele:

GTACTTGT, GC

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).