Mutation details:

Protein level identifier (NP_000208):

p.Thr288Met

cDNA level identifier (NM_000217):

c.677C>T

Gene level identifier:

g.2151C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

12:5021221 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).