Mutation details:

Protein level identifier (n.a.):

p. Thr614Asnfs*16

cDNA level identifier (n.a.):

c.1841_1842delCC

Gene level identifier:

g.90876_90877delCC

Reference, alternative allele:

ACC, 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:

3 heterozygous (3 in total).