Mutation details:

Protein level identifier (n.a.):

p.Tyr898Leufs*170

cDNA level identifier (n.a.):

c.2691dupC

Gene level identifier:

g.325046dupC

Reference, alternative allele:

A, AG

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).