Mutation details:

Protein level identifier (n.a.):

p.Ile1342Thr

cDNA level identifier (n.a.):

c.4025T>C

Gene level identifier:

g.361190T>C

Reference, alternative allele:

A, 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:

1 heterozygous (1 in total).