| Chromosome: | chr18 |
| Position (hg19): | 21141489 |
| Reference: | T |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant&splice_region_variant |
| cDNA change: | c.466A>G |
| AA change: | p.Met156Val |
| Exon/intron: | 5 |
| dbSNP id: | rs149074243 |
| 1000g AF: | |
| ExAC AF: | 0.00007413 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0014 |
| Classification: | 2 (likely benign) |
| # patients: | 0 |
| # controls: | 6 |
| Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |
