Mutation details:

Protein level identifier (NP_000208):

p.Thr226Arg

cDNA level identifier (NM_000217):

c.677C>G

Gene level identifier:

g.2151C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

12:5021221 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

26

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).