| Chromosome: | chr18 |
| Position (hg19): | 21136491 |
| Reference: | G |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | stop_gained |
| cDNA change: | c.1042C>T |
| AA change: | p.Arg348* |
| Exon/intron: | 8 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.00001647 |
| ESP6500ea AF: | 0.0002 |
| ESP6500aa AF: | 0 |
| Classification: | 5 (pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database Sztolsztener_(2010)_Arch_Biochem_Biophys_493_221 |
