Table 1.
Summary of NPC1 gene variants.
| DNA | Protein | Exon | Prediction | Clinical Significance 1 | Allele Frequency (MAF) 2 | |
|---|---|---|---|---|---|---|
| PolyPhen2 | SIFT | |||||
| c.180G>T | p.Gln60His | 2 | possibly damaging | tolerated | no entry | 3.314 × 10−4 |
| c.1480G>A | p.Val494Met | 9 | benign | tolerated | GVUS | 1.657 × 10−4 |
| c.2359A>G | p.Ile787Val | 15 | benign | tolerated | no entry | 1.450 × 10−4 |
| c.2861C>T | p.Ser954Leu | 19 | possibly damaging | damaging | pathogenic | 8.292 × 10−5 |
| c.3817G>A | p.Glu1273Lys | 25 | benign | damaging | no entry | no data |
1 as referenced in ClinVar [15], 2 Allele frequency in exomes of non-Finnish European population according to gnomAD (https://gnomad.broadinstitute.org/).