| Chromosome: | chr18 |
| Position (hg19): | 21121148 |
| Reference: | A |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.2398T>C |
| AA change: | p.Cys800Arg |
| Exon/intron: | 16 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.000453 |
| ESP6500ea AF: | 0.0006 |
| ESP6500aa AF: | 0 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Anheim_(2014)_J_Neurol_261:174 na |
