Mutation details:

Protein level identifier (n.a.):

p.Arg822Profs*246

cDNA level identifier (n.a.):

c.2464dupC

Gene level identifier:

g.324819dupC

Reference, alternative allele:

C, CG

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).