| Chromosome: | chr18 |
| Position (hg19): | 21124945 |
| Reference: | C |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.1926G>C |
| AA change: | p.Met642Ile |
| Exon/intron: | 12 |
| dbSNP id: | rs1788799 |
| 1000g AF: | |
| ExAC AF: | 0.718 |
| ESP6500ea AF: | 0.645 |
| ESP6500aa AF: | 0.9097 |
| Classification: | 1 (benign) |
| # patients: | 38 |
| # controls: | 9555 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |
