Mutation details:

Protein level identifier (NP_000208):

p.Arg307Cys

cDNA level identifier (NM_000217):

c.919C>T

Gene level identifier:

g.2393C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

12:5021463 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).