12:120876244-120876244 A > -

Classification

Category 2

frameshift

CMH MAF

2 / 6955 samples (0.0288%)
2 het., 0 hom. (100%)
2 / 13910 total alleles (0.0144%)

Genes

Consequences
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