| Chromosome: | chr18 |
| Position (hg19): | 21119348 |
| Reference: | T |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.2882A>G |
| AA change: | p.Asn961Ser |
| Exon/intron: | 19 |
| dbSNP id: | rs34084984 |
| 1000g AF: | |
| ExAC AF: | 0.001079 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0127 |
| Classification: | 1 (benign) |
| # patients: | 1 |
| # controls: | 56 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Dvorakova_et_al._(2006)_J_Inherit_Metab_Dis_29:591 |
