Mutation details:

Protein level identifier (n.a.):

p.Cys1534Ser

cDNA level identifier (n.a.):

c.4601G>C

Gene level identifier:

g.368739G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).