| Chromosome: | chr18 |
| Position (hg19): | 21119319 |
| Reference: | C |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | missense_variant&splice_region_variant |
| cDNA change: | c.2911G>C |
| AA change: | p.Val971Leu |
| Exon/intron: | 19 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.00004118 |
| ESP6500ea AF: | 0 |
| ESP6500aa AF: | 0.0007 |
| Classification: | 2 (likely benign) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |
