Mutation details:

Protein level identifier (NP_000208):

p.Leu319Arg

cDNA level identifier (NM_000217):

c.956T>G

Gene level identifier:

g.2430T>G

Reference, alternative allele:

T, G

Genomic location hg(19)

12:5021500 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).