Mutation details:

cDNA level identifier (n.a.):

c.4759-1545_4869+2385del

Gene level identifier:

g.369345_373385del

Archive identifier/Other designation:

Exon 30 deletion

Reference, alternative allele:

C+4040, C

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).