| Chromosome: | chr18 |
| Position (hg19): | 21113325 |
| Reference: | AACTG |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | frameshift_variant |
| cDNA change: | c.3744_3747delCAGT |
| AA change: | p.Ser1249fs |
| 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: | Human_Gene_Mutation_Database Meiner_et_al._(2001)_Genet_Med_3:343-348 |
