| Chromosome: | chr18 |
| Position (hg19): | 21124416 |
| Reference: | GAC |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | frameshift_variant |
| cDNA change: | c.2020_2021delGT |
| AA change: | p.Val674fs |
| Exon/intron: | 13 |
| dbSNP id: | rs769114894 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0.0259 |
| ESP6500aa AF: | 0.0246 |
| Classification: | n/a |
| # patients: | 0 |
| # controls: | 0 |
| Sources: |
