Mutation details:

Protein level identifier (n.a.):

p.Glu921Asp

cDNA level identifier (n.a.):

c.2736G>C

Gene level identifier:

g.325091G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

10

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

9 compound heterozygous (9 in total).