| Chromosome: | chr18 |
| Position (hg19): | 21113355 |
| Reference: | C |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.3718G>A |
| AA change: | p.Gly1240Arg |
| Exon/intron: | 24 |
| dbSNP id: | rs745892286 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0007 |
| Classification: | 5 (pathogenic) |
| # patients: | 2 |
| # controls: | 0 |
| Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Runz__H._unpublished_(personal_communication) |
