| Chromosome: | chr18 |
| Position (hg19): | 21113458 |
| Reference: | TGTAA |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | frameshift_variant |
| cDNA change: | c.3611_3614delTTAC |
| AA change: | p.Leu1204fs |
| Exon/intron: | 24 |
| dbSNP id: | rs786200879 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0002 |
| Classification: | 3 (unknown significance) |
| # patients: | 0 |
| # controls: | 1 |
| Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |
