Mutation details:

Protein level identifier (n.a.):

p.Trp169Glyfs*10

cDNA level identifier (n.a.):

c.504delC

Gene level identifier:

g.171080delC

Reference, alternative allele:

AG, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).