| Chromosome: | chr18 |
| Position (hg19): | 21124355 |
| Reference: | G |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant |
| cDNA change: | c.2083C>G |
| AA change: | p.Leu695Val |
| Exon/intron: | 13 |
| dbSNP id: | rs370323921 |
| 1000g AF: | |
| ExAC AF: | 0.000008236 |
| ESP6500ea AF: | 0.0001 |
| ESP6500aa AF: | 0 |
| Classification: | 4 (likely pathogenic) |
| # patients: | 1 |
| # controls: | 1 |
| Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |
