Classification

Category 2

premature_stop

CMH MAF

2 / 9594 samples (0.0208%)
2 het., 0 hom. (100%)
2 / 19188 total alleles (0.0104%)

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