Mutation details:

cDNA level identifier (n.a.):

c.5137-10_2delAATTCCACA

Gene level identifier:

g.388945_388953delAATTCCACA

Archive identifier/Other designation:

IVS33-10_2delAATTCCACA

Reference, alternative allele:

CTGTGGAATT, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).