| Chromosome: | chr18 |
| Position (hg19): | 21121351 |
| Reference: | C |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | synonymous_variant |
| cDNA change: | c.2292G>A |
| AA change: | p.Ala764Ala |
| Exon/intron: | 15 |
| dbSNP id: | rs772565983 |
| 1000g AF: | |
| ExAC AF: | 0.00001647 |
| ESP6500ea AF: | 0.0001 |
| ESP6500aa AF: | 0 |
| Classification: | 2 (likely benign) |
| # patients: | 16 |
| # controls: | 0 |
| Sources: | Ribeiro_I._(2001)Hum_Genet_109:_24_�_32. http://www.ncbi.nlm.nih.gov/pubmed/11479732 |
