Mutation details:

Protein level identifier (n.a.):

p.Ser218Leu

cDNA level identifier (n.a.):

c.653C>T

Gene level identifier:

g.258543C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

18581134; 19104150; 19438926; 20071244; 20186955; 20631222; 21490217; 21824570; 23115190; 23673147; 23985897; 24849341; 25716839; 26208839; 30080864; 30649209; 31628185;

Number of all included cases:

4 heterozygous (4 in total).

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