Mutation details:

cDNA level identifier (n.a.):

c.(4962+1_4963-1)_(*871_?)del

Archive identifier/Other designation:

Exon 32-47 deletion

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).