Mutation details:

cDNA level identifier (n.a.):

c.(539+1_540-1)_(*1604_?)del

Archive identifier/Other designation:

Exon 4-47 deletion

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).