Mutation details:

cDNA level identifier (n.a.):

c.1092_1098+1delGCCTGAGG

Gene level identifier:

g.52596_52603delGCCTGAGG

Reference, alternative allele:

GGCCTGAGG, G

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).