Mutation details:

Protein level identifier (n.a.):

p.His1946Gln

cDNA level identifier (n.a.):

c.5838C>G

Gene level identifier:

g.409486C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).