Mutation details:

Protein level identifier (n.a.):

p.Val355Glyfs*32

cDNA level identifier (n.a.):

c.1063dupG

Gene level identifier:

g.288166dupG

Reference, alternative allele:

A, AC

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).