Mutation details:

cDNA level identifier (n.a.):

c.979-1G>A

Gene level identifier:

g.288081G>A

Archive identifier/Other designation:

IVS6-1G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).