Mutation details:

Protein level identifier (NP_000208):

p.Ile262Met

cDNA level identifier (NM_000217):

c.786C>G

Gene level identifier:

g.2260C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

12:5021330 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).