Mutation details:

Protein level identifier (n.a.):

p.Trp1448*

cDNA level identifier (n.a.):

c.4344G>A

Gene level identifier:

g.364380G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

44

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).