Mutation details:

Protein level identifier (NP_000208):

p.Glu325Asp

cDNA level identifier (NM_000217):

c.975G>C

Gene level identifier:

g.2449G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

12:5021519 (not available on ExAC)

Gene name:

KCNA1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

23

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).

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