| Chromosome: | chr18 |
| Position (hg19): | 21136290 |
| Reference: | TGA |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | frameshift_variant |
| cDNA change: | c.1241_1242delTC |
| AA change: | p.Leu414fs |
| Exon/intron: | 8 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.00003295 |
| ESP6500ea AF: | 0.0001 |
| ESP6500aa AF: | 0 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database Spiegel_et_al_(2009)_Am_J_Med_Genet_A_149A__446 |
