| Chromosome: | chr18 |
| Position (hg19): | 21124310 |
| Reference: | G |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | stop_gained&splice_region_variant |
| cDNA change: | c.2128C>T |
| AA change: | p.Gln710* |
| Exon/intron: | 13 |
| dbSNP id: | rs483352889 |
| 1000g AF: | |
| ExAC AF: | 0.00001647 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0002 |
| Classification: | 5 (pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Lin_et_al__J_Lipid_Res._201455(2):338-4 http://www.ncbi.nlm.nih.gov/pubmed/24190732 |
