Mutation details:

Protein level identifier (n.a.):

p.Glu1756Gly

cDNA level identifier (n.a.):

c.5267A>G

Gene level identifier:

g.392145A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).