| Chromosome: | chr18 |
| Position (hg19): | 21127971 |
| Reference: | C |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant&splice_region_variant |
| cDNA change: | c.1756G>A |
| AA change: | p.Glu586Lys |
| Exon/intron: | 11 |
| dbSNP id: | rs369753548 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0005 |
| Classification: | 2 (likely benign) |
| # patients: | 0 |
| # controls: | 2 |
| Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |
