Mutation details:

cDNA level identifier (n.a.):

c.1493+2_1493+5delTAGG

Gene level identifier:

g.73580_73583delTAGG

Archive identifier/Other designation:

IVS12+2delTAGG

Reference, alternative allele:

GTAGG, G

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).