| Chromosome: | chr18 |
| Position (hg19): | 21118537 |
| Reference: | A |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.3010T>C |
| AA change: | p.Ser1004Pro |
| Exon/intron: | 20 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.000939 |
| ESP6500ea AF: | 0.0008 |
| ESP6500aa AF: | 0.0002 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | unpublished_(personal_communication) unpublished_(personal_communication) |
