Mutation details:

Protein level identifier (n.a.):

p.Ser245Hisfs*10

cDNA level identifier (n.a.):

c.732_733insCA

Gene level identifier:

g.51077_51078insCA

Reference, alternative allele:

T, TCA

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 compound heterozygous (4 in total).

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