| Chromosome: | chr18 |
| Position (hg19): | 21113319 |
| Reference: | C |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant&splice_region_variant |
| cDNA change: | c.3754G>C |
| AA change: | p.Gly1252Arg |
| Exon/intron: | 24 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.001054 |
| ESP6500ea AF: | 0.0013 |
| ESP6500aa AF: | 0 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254 |
