Mutation details:

Protein level identifier (n.a.):

p.Gln681Argfs*100

cDNA level identifier (n.a.):

c.2042_2043delAG

Gene level identifier:

g.320159_320160delAG

Reference, alternative allele:

CCT, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous, 1 n.a. (5 in total).