Mutation details:

cDNA level identifier (n.a.):

c.5629-1151_5943+452del

Gene level identifier:

g.387566_410210del

Archive identifier/Other designation:

Exon 38-40 deletion

Reference, alternative allele:

T+22644, T

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:

2 heterozygous (2 in total).