Mutation details:

Protein level identifier (NP_000208):

p.Arg417Term

cDNA level identifier (NM_000217):

c.1249C>T

Gene level identifier:

g.2723C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

12:5021793 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

42

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).