Mutation details:

cDNA level identifier (n.a.):

c.978+1G>A

Gene level identifier:

g.264386G>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:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).