Mutation details:

Protein level identifier (n.a.):

p.Asp342His

cDNA level identifier (n.a.):

c.1024G>C

Gene level identifier:

g.52528G>C

Reference, alternative allele:

G, C

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).