| Chromosome: | chr18 |
| Position (hg19): | 21134723 |
| Reference: | G |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant&splice_region_variant |
| cDNA change: | c.1552C>T |
| AA change: | p.Arg518Trp |
| Exon/intron: | 9 |
| dbSNP id: | rs377515417 |
| 1000g AF: | |
| ExAC AF: | 0.00007413 |
| ESP6500ea AF: | 0.0002 |
| ESP6500aa AF: | 0 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 7 |
| # controls: | 2 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Ribeiro_et_al._(2001)_Hum_Genet_109:24-32 |
