| Chromosome: | chr18 |
| Position (hg19): | 21128015 |
| Reference: | T |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.1712A>G |
| AA change: | p.Tyr571Cys |
| Exon/intron: | 11 |
| dbSNP id: | rs750033860 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0005 |
| Classification: | 3 (unknown significance) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Bauer_(2013)_Hum_Mol_Genet_22:4349 na |
