Mutation details:

cDNA level identifier (n.a.):

c.586+9_586+12delTAAT

Gene level identifier:

g.26004_26007delTAAT

Archive identifier/Other designation:

IVS3+9_12delTAAT

Reference, alternative allele:

TTAAT, T

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

12 heterozygous (12 in total).