Mutation details:

Protein level identifier (NP_000208):

p.Arg167Met

cDNA level identifier (NM_000217):

c.500G>T

Gene level identifier:

g.1974G>T

Reference, alternative allele:

G, T

Genomic location hg(19)

12:5021044 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).