Mutation details:

Protein level identifier (NP_000208):

p.Phe414Ser

cDNA level identifier (NM_000217):

c.1241T>C

Gene level identifier:

g.2715T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

12:5021785 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

31

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).

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