| Chromosome: | chr18 |
| Position (hg19): | 21119770 |
| Reference: | C |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | splice_region_variant&intron_variant |
| cDNA change: | c.2795+5G>A |
| AA change: | |
| Exon/intron: | 18 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.003492 |
| ESP6500ea AF: | 0.0053 |
| ESP6500aa AF: | 0.0005 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | unpublished_(personal_communication) unpublished_(personal_communication) |
