Mutation details:

Protein level identifier (NP_000208):

p.Ile262Thr

cDNA level identifier (NM_000217):

c.785T>C

Gene level identifier:

g.2259T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

12:5021329 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

27

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).

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