Mutation details:

Protein level identifier (n.a.):

p.Asp1165Thrfs*22

cDNA level identifier (n.a.):

c.3492delC

Gene level identifier:

g.337424delC

Reference, alternative allele:

CG, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).