Mutation details:

Protein level identifier (n.a.):

p.Phe1391Leufs*39

cDNA level identifier (n.a.):

c.4173delC

Gene level identifier:

g.362461delC

Reference, alternative allele:

CG, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).