| Chromosome: | chr18 |
| Position (hg19): | 21134722 |
| Reference: | C |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant&splice_region_variant |
| cDNA change: | c.1553G>A |
| AA change: | p.Arg518Gln |
| Exon/intron: | 9 |
| dbSNP id: | rs483352886 |
| 1000g AF: | |
| ExAC AF: | 0.0003624 |
| ESP6500ea AF: | 0.0007 |
| ESP6500aa AF: | 0 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 7 |
| # controls: | 0 |
| Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database__Takamura_(2013)_Mol_Genet_Metab_110:401 Vanier_and_Millat_(2003)_Clin_Genet_64:269-281 |
