Mutation details:

Protein level identifier (NP_000208):

p.Phe249Cys

cDNA level identifier (NM_000217):

c.746T>G

Gene level identifier:

g.2220T>G

Reference, alternative allele:

T, G

Genomic location hg(19)

12:5021290 (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:

5 heterozygous (5 in total).