Mutation details:

Protein level identifier (n.a.):

p.Ser940Glnfs*128

cDNA level identifier (n.a.):

c.2816dupG

Gene level identifier:

g.325171dupG

Reference, alternative allele:

G, GC

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).