Classification
Category 2
frameshift
CMH MAF
2 /
6955 samples
(0.0288%)
2 het.,
0 hom.
(100%)
2 /
13910 total alleles
(0.0144%)
Genes
gene: COX6A1
synonym(s): COX6A, COX6AL, COX6A1, ENSG00000111775
NM_004373.3
[CDS]
Reportable
hgvs_c: NM_004373.3:c.167del
reference AA: N
variant AA: X
reference codon: Aat
variant codon: at
cDNA pos: 203
CDS pos: 166
translation impact: frameshift
protein sequence:
NP_004364.2
AA pos: 56
hgvs_p: NP_004364.2:p.Asn56MetfsTer4
blosum: -1
Export Variant
Curation
Likely pathogenic