Mutation details:

Protein level identifier (n.a.):

p.Phe624Leufs*34

cDNA level identifier (n.a.):

c.1872_1875delCATT

Gene level identifier:

g.315827_315830delCATT

Reference, alternative allele:

CAATG, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

×