Mutation details:

cDNA level identifier (n.a.):

c.(5634+1_5635-1)_(*1604_?)del

Archive identifier/Other designation:

Exon 39-47 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:

4 heterozygous (4 in total).