Mutation details:

Protein level identifier (NP_000208):

p.Phe250del

cDNA level identifier (NM_000217):

c.748_750delTTC

Gene level identifier:

g.2222_2224delTTC

Reference, alternative allele:

CTTC, C

Genomic location hg(19)

12:5021291 (not available on ExAC)

Gene name:

KCNA1

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).