| Chromosome: | chr18 |
| Position (hg19): | 21118528 |
| Reference: | G |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.3019C>G |
| AA change: | p.Pro1007Ala |
| Exon/intron: | 20 |
| dbSNP id: | rs80358257 |
| 1000g AF: | |
| ExAC AF: | 0.0001153 |
| ESP6500ea AF: | 0.0002 |
| ESP6500aa AF: | 0 |
| Classification: | 5 (pathogenic) |
| # patients: | 16 |
| # controls: | 2 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Greer_et_al._(1999)_Am_J_Hum_Genet_65:1252-1260 |
