Mutation details:

Protein level identifier (n.a.):

p.Gln2325_Ala2326insGln

cDNA level identifier (n.a.):

c.6975_6976insCAG

Gene level identifier:

g.416134_416135insCAG

Reference, alternative allele:

C, CCTG

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

14

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).