| Chromosome: | chr18 |
| Position (hg19): | 21148821 |
| Reference: | CTCTT |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | frameshift_variant |
| cDNA change: | c.425_428delAAGA |
| AA change: | p.Lys142fs |
| Exon/intron: | 4 |
| dbSNP id: | rs770580241 |
| 1000g AF: | |
| ExAC AF: | 0.000008237 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0002 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database Millat_et_al_(2005)_Mol_Genet_Metab_86_220 |
