Mutation details:

cDNA level identifier (n.a.):

c.1413+3_1413+6delAAGT

Gene level identifier:

g.73361_73364delAAGT

Archive identifier/Other designation:

IVS11+3_6delAAGT

Reference, alternative allele:

TAAGT, T

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

9 heterozygous (9 in total).