Mutation details:

Protein level identifier (n.a.):

p.Arg1819*

cDNA level identifier (n.a.):

c.5455C>T

Gene level identifier:

g.393833C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

40

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).