| Chromosome: | chr18 |
| Position (hg19): | 21148904 |
| Reference: | G |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | stop_gained |
| cDNA change: | c.346C>T |
| AA change: | p.Arg116* |
| Exon/intron: | 4 |
| dbSNP id: | rs144973225 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0002 |
| Classification: | 5 (pathogenic) |
| # patients: | 2 |
| # controls: | 1 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254 |
