| Chromosome: | chr18 |
| Position (hg19): | 21113475 |
| Reference: | T |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.3598A>G |
| AA change: | p.Ser1200Gly |
| Exon/intron: | 24 |
| dbSNP id: | rs35248744 |
| 1000g AF: | |
| ExAC AF: | 0.0009637 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0138 |
| Classification: | 3 (unknown significance) |
| # patients: | 1 |
| # controls: | 61 |
| Sources: | Exome_Variant_Server_/_Bauer(2013)_Hum_Mol_Genet_22:4349 http://evs.gs.washington.edu/EVS/ |
