Mutation details:

Protein level identifier (n.a.):

p.Lys1139Glnfs*6

cDNA level identifier (n.a.):

c.3414dupC

Gene level identifier:

g.337346dupC

Reference, alternative allele:

T, TG

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).