| Chromosome: | chr18 |
| Position (hg19): | 21141461 |
| Reference: | G |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.494C>T |
| AA change: | p.Ala165Val |
| Exon/intron: | 5 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.004209 |
| ESP6500ea AF: | 0.0001 |
| ESP6500aa AF: | 0 |
| Classification: | n/a |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Takamura_(2013)_Mol_Genet_Metab_110:401 na |
