Mutation details:

Protein level identifier (n.a.):

p.Arg499Cys

cDNA level identifier (n.a.):

c.1495C>T

Gene level identifier:

g.78295C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

33 heterozygous (33 in total).

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