Mutation details:

Protein level identifier (n.a.):

p.Gln352*

cDNA level identifier (n.a.):

c.1054C>T

Gene level identifier:

g.52558C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

SPAST

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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