Mutation details:

Protein level identifier (n.a.):

p.Tyr1282*

cDNA level identifier (n.a.):

c.3846C>G

Gene level identifier:

g.346883C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).