Mutation details:

Protein level identifier (NP_000208):

p.Ser342Ile

cDNA level identifier (NM_000217):

c.1025G>T

Gene level identifier:

g.2499G>T

Reference, alternative allele:

G, T

Genomic location hg(19)

12:5021569 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).