Mutation details:

cDNA level identifier (n.a.):

c.6053+4delAGTG

Gene level identifier:

g.411364_411367delAGTG

Archive identifier/Other designation:

IVS41+4delAGTG

Reference, alternative allele:

ACACT, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).