Mutation details:

cDNA level identifier (n.a.):

c.1493+2T>C

Gene level identifier:

g.73580T>C

Archive identifier/Other designation:

IVS12+2T>C

Reference, alternative allele:

T, C

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).