Mutation details:

Protein level identifier (n.a.):

p.Leu367Cysfs*29

cDNA level identifier (n.a.):

c.1099-2_1099delAGT

Gene level identifier:

g.63336_63338delAGT

Archive identifier/Other designation:

IVS7-2delAGT

Reference, alternative allele:

TAGT, T

Genomic location

not available

Gene name:

SPAST

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).