Mutation details:

cDNA level identifier (n.a.):

c.1322_31del29

Gene level identifier:

g.73236_73264del29

Archive identifier/Other designation:

IVS10-31del29

Reference, alternative allele:

TAATTAAAGTCTTATACTTGTATTTCCTCT, T

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).