| Chromosome: | chr18 |
| Position (hg19): | 21120444 |
| Reference: | T |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.2572A>G |
| AA change: | p.Ile858Val |
| Exon/intron: | 17 |
| dbSNP id: | rs1805082 |
| 1000g AF: | |
| ExAC AF: | 0.49 |
| ESP6500ea AF: | 0.4706 |
| ESP6500aa AF: | 0.3883 |
| Classification: | 1 (benign) |
| # patients: | 28 |
| # controls: | 5758 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |
