Mutation details:

Protein level identifier (n.a.):

p.Gln736*

cDNA level identifier (n.a.):

c.2206C>T

Gene level identifier:

g.323365C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).