Mutation details:

cDNA level identifier (n.a.):

c.979-2453_1348+3157del

Gene level identifier:

g.283629_296904del

Archive identifier/Other designation:

Exon 7-10 deletion

Reference, alternative allele:

G+13275, G

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).