Mutation details:

Protein level identifier (NP_000208):

p.Ile314Thr

cDNA level identifier (NM_000217):

c.941T>C

Gene level identifier:

g.2415T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

12:5021485 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).