Mutation details:

cDNA level identifier (n.a.):

c.870+1delG

Gene level identifier:

g.51216delG

Archive identifier/Other designation:

IVS5+1delG

Reference, alternative allele:

GG, 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:

3 heterozygous (3 in total).