Mutation details:

Protein level identifier (n.a.):

p.Phe1367Leu

cDNA level identifier (n.a.):

c.4101T>G

Gene level identifier:

g.362389T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

14

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).