| Chromosome: | chr18 |
| Position (hg19): | 21141350 |
| Reference: | GGTGCCT |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | disruptive_inframe_deletion |
| cDNA change: | c.599_604delAGGCAC |
| AA change: | p.Gln200_Ala201del |
| Exon/intron: | 5 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.005568 |
| ESP6500ea AF: | 0.002 |
| ESP6500aa AF: | 0 |
| Classification: | 3 (unknown significance) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database Carstea_et_al._(1997)_Science_277:180-181 |
