| Chromosome: | chr18 |
| Position (hg19): | 21116700 |
| Reference: | A |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.3182T>C |
| AA change: | p.Ile1061Thr |
| Exon/intron: | 21 |
| dbSNP id: | rs80358259 |
| 1000g AF: | |
| ExAC AF: | 0.0002389 |
| ESP6500ea AF: | 0.0005 |
| ESP6500aa AF: | 0.0002 |
| Classification: | 5 (pathogenic) |
| # patients: | 67 |
| # controls: | 5 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Millat_et_al._(1999)_Am_J_Hum_Genet_65:1321-1329 |
