Mutation details:

Protein level identifier (NP_000208):

p.Ile407Met

cDNA level identifier (NM_000217):

c.1221T>G

Gene level identifier:

g.2695T>G

Reference, alternative allele:

T, G

Genomic location hg(19)

12:5021765 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

10 heterozygous (10 in total).