Mutation details:

Protein level identifier (n.a.):

p.Asp210Glufs*2

cDNA level identifier (n.a.):

c.629_682+22003delinsAGT

Gene level identifier:

g.35228_57284delinsAGT

Reference, alternative allele:

G+22057, GAGT

Genomic location

not available

Gene name:

SPAST

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).