Mutation details:

Protein level identifier (n.a.):

p.Tyr1957Ter

cDNA level identifier (n.a.):

c.5871C>A

Gene level identifier:

g.409686C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).