15:85360504-85360505 - > A

Classification

Category 2

frameshift

CMH MAF

1 / 13105 samples (0.00763%)
1 het., 0 hom. (100%)
1 / 26210 total alleles (0.00382%)

Genes

Consequences
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