10:78704596-78704596 G > -


Category 2 frameshift
CMH MAF 3 / 13144 samples (0.0228%)
3 het., 0 hom. (100%)
3 / 26288 total alleles (0.0114%)

gene: KCNMA1 synonym(s): bA205K10.1, BKTM, KCa1.1, MaxiK, mSLO1, SAKCA, SLO, SLO-ALPHA, SLO1, KCNMA1, ENSG00000156113

OMIM:600150: KCNMA1
OMIM:617643: Cerebellar atrophy, developmental delay, and seizures
OMIM:618729: Liang-Wang syndrome
OMIM:609446: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
OMIM:618596: {Epilepsy, idiopathic generalized, susceptibility to, 16}

NM_002247.3 [CDS]
hgvs_c: NM_002247.3:c.2663del
reference AA: A
variant AA: X
reference codon: gCg
variant codon: gg
cDNA pos: 2840
CDS pos: 2663
translation impact: frameshift
protein sequence: NP_002238.2
AA pos: 888
hgvs_p: NP_002238.2:p.Ala888GlyfsTer60
blosum: 0