Mutation details:

Protein level identifier (n.a.):

p.Arg1661His

cDNA level identifier (n.a.):

c.4982G>A

Gene level identifier:

g.388289G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).