| Chromosome: | chr18 |
| Position (hg19): | 21125034 |
| Reference: | G |
| Observed: | A |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | synonymous_variant |
| cDNA change: | c.1837C>T |
| AA change: | p.Leu613Leu |
| Exon/intron: | 12 |
| dbSNP id: | rs147281003 |
| 1000g AF: | |
| ExAC AF: | 0.00005765 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0005 |
| Classification: | 2 (likely benign) |
| # patients: | 0 |
| # controls: | 1 |
| Sources: | 1000Genome_Project http://www.1000genomes.org/ |
