Mutation details:

cDNA level identifier (n.a.):

c.1004+2T>A

Gene level identifier:

g.52227T>A

Archive identifier/Other designation:

IVS6+2T>A

Reference, alternative allele:

T, A

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).