Mutation details:

Protein level identifier (NP_000208):

p.Glu283Lys

cDNA level identifier (NM_000217):

c.847G>A

Gene level identifier:

g.2321G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

12:5021391 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).