Mutation details:

Protein level identifier (NP_000208):

p.Ala242Pro

cDNA level identifier (NM_000217):

c.724G>C

Gene level identifier:

g.2198G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

12:5021268 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).