| Chromosome: | chr18 |
| Position (hg19): | 21148896 |
| Reference: | ACT |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | frameshift_variant |
| cDNA change: | c.352_353delAG |
| AA change: | p.Gln119fs |
| Exon/intron: | 4 |
| dbSNP id: | rs759075595 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0.1673 |
| ESP6500aa AF: | 0.081 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 2 |
| # controls: | 1 |
| Sources: | Stampfer_et_al_(2013)_OJRD__8:35 http://www.ncbi.nlm.nih.gov/pubmed/23433426 |
