Classification
Category 2
frameshift
CMH MAF
1 /
13105 samples
(0.00763%)
1 het.,
0 hom.
(100%)
1 /
26210 total alleles
(0.00382%)
Genes
gene: ALPK3
synonym(s): MAK, MIDORI, ALPK3, ENSG00000136383
NM_020778.4
[CDS]
Reportable
hgvs_c: NM_020778.4:c.427_428insA
reference AA: R
variant AA: QX
reference codon: cgg
variant codon: cAgg
cDNA pos: 594
CDS pos: 427
translation impact: frameshift
protein sequence:
NP_065829.3
AA pos: 143
hgvs_p: NP_065829.3:p.Arg143GlnfsTer21
blosum: 1
Export Variant
Curation
Likely pathogenic