Mutation details:

cDNA level identifier (n.a.):

c.5629-2A>G

Gene level identifier:

g.399217A>G

Archive identifier/Other designation:

IVS37-2A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).