Classification
Category 2
premature_stop
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: SKI
synonym(s): SGS, SKV, SKI, ENSG00000157933
NM_003036.3
[CDS]
Reportable
hgvs_c: NM_003036.3:c.2185_*8dupTAGATTCCGTG
reference AA: P
variant AA: P*IPX
reference codon: ccg
variant codon: ccGTAGATTCCGTg
cDNA pos: 2255
CDS pos: 2183
translation impact: premature_stop
protein sequence:
NP_003027.1
AA pos: 728
blosum: 7
Export Variant
Curation
Uncertain Significance